Molecular Definition Implementation Guide for Molecular Data Types, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 1.0.0-ballot1 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/molecular-definition-data-types/ and changes regularly. See the Directory of published versions

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: example-variation-tri-allelic-ABCB1 - JSON Representation

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{
  "resourceType" : "MolecularDefinition",
  "id" : "example-variation-tri-allelic-ABCB1",
  "meta" : {
    "profile" : [
      🔗 "http://hl7.org/fhir/uv/molecular-definition-data-types/StructureDefinition/variation"
    ]
  },
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: MolecularDefinition example-variation-tri-allelic-ABCB1</b></p><a name=\"example-variation-tri-allelic-ABCB1\"> </a><a name=\"hcexample-variation-tri-allelic-ABCB1\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-variation.html\">Variation</a></p></div><p><b>moleculeType</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecule-type dna}\">DNA Sequence</span></p><p><b>type</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecule-type dna}\">DNA Sequence</span></p><blockquote><p><b>location</b></p><blockquote><p><b>sequenceLocation</b></p><p><b>sequenceContext</b>: <a href=\"MolecularDefinition-example-sequence-nc00000714-url.html\">Homo sapiens chromosome 7, GRCh38.p14 Primary Assembly, NC_000007.14</a></p><blockquote><p><b>coordinateInterval</b></p><h3>CoordinateSystems</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>System</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://loinc.org LA30100-4}\">0-based interval counting</span></td></tr></table><p><b>start</b>: 87531302</p></blockquote></blockquote></blockquote><blockquote><p><b>representation</b></p><p><b>focus</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecular-definition-focus reference-state}\">Reference State</span></p><h3>Literals</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Value</b></td></tr><tr><td style=\"display: none\">*</td><td>A</td></tr></table></blockquote><blockquote><p><b>representation</b></p><p><b>focus</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecular-definition-focus alternative-state}\">Alternative State</span></p><h3>Literals</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Value</b></td></tr><tr><td style=\"display: none\">*</td><td>C</td></tr></table></blockquote><blockquote><p><b>representation</b></p><p><b>focus</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecular-definition-focus context-state}\">Context State</span></p><h3>Literals</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Value</b></td></tr><tr><td style=\"display: none\">*</td><td>T</td></tr></table></blockquote></div>"
  },
  "moleculeType" : {
    "coding" : [
      {
        "system" : "http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecule-type",
        "code" : "dna",
        "display" : "DNA Sequence"
      }
    ]
  },
  "type" : [
    {
      "coding" : [
        {
          "system" : "http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecule-type",
          "code" : "dna",
          "display" : "DNA Sequence"
        }
      ]
    }
  ],
  "location" : [
    {
      "sequenceLocation" : {
        "sequenceContext" : {
          🔗 "reference" : "MolecularDefinition/example-sequence-nc00000714-url",
          "type" : "MolecularDefinition",
          "display" : "Homo sapiens chromosome 7, GRCh38.p14 Primary Assembly, NC_000007.14"
        },
        "coordinateInterval" : {
          "coordinateSystem" : {
            "system" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "LA30100-4",
                  "display" : "0-based interval counting"
                }
              ]
            }
          },
          "startQuantity" : {
            "value" : 87531302
          }
        }
      }
    }
  ],
  "representation" : [
    {
      "focus" : {
        "coding" : [
          {
            "system" : "http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecular-definition-focus",
            "code" : "reference-state",
            "display" : "Reference State"
          }
        ]
      },
      "literal" : {
        "value" : "A"
      }
    },
    {
      "focus" : {
        "coding" : [
          {
            "system" : "http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecular-definition-focus",
            "code" : "alternative-state",
            "display" : "Alternative State"
          }
        ]
      },
      "literal" : {
        "value" : "C"
      }
    },
    {
      "focus" : {
        "coding" : [
          {
            "system" : "http://hl7.org/fhir/uv/molecular-definition-data-types/CodeSystem/molecular-definition-focus",
            "code" : "context-state",
            "display" : "Context State"
          }
        ]
      },
      "literal" : {
        "value" : "T"
      }
    }
  ]
}