Clinical Genomics Resource Incubator
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Clinical Genomics Resource Incubator, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 0.1.0-ci-build built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/cg-incubator/ and changes regularly. See the Directory of published versions

: Molecular Definition Variation PGx Variant 1012

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{
  "resourceType" : "MolecularDefinition",
  "resourceDefinition" : "http://hl7.org/fhir/StructureDefinition/MolecularDefinition|0.1.0-ci-build",
  "id" : "example-variation-pgx-var-1012",
  "language" : "en",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\" xml:lang=\"en\" lang=\"en\"><p class=\"res-header-id\"><b>Generated Narrative: MolecularDefinition example-variation-pgx-var-1012</b></p><a name=\"example-variation-pgx-var-1012\"> </a><a name=\"hcexample-variation-pgx-var-1012\"> </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\">Language: en</p></div><p><b>moleculeType</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/cg-incubator/CodeSystem/moleculardefinition-moleculetype 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-nc00001010-url.html\">Starting Sequence Resource: Homo sapiens chromosome 10, GRCh37.p13 Primary Assembly, NC_000010.10</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 LA30102-0}\">1-based character counting</span></td></tr></table><p><b>start</b>: 96522463</p><p><b>end</b>: 96522463</p></blockquote></blockquote></blockquote><blockquote><p><b>representation</b></p><p><b>focus</b>: Reference State</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>: Alternative State</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></div>"
  },
  "moleculeType" : {
    "coding" : [
      {
        "system" : "http://hl7.org/fhir/uv/cg-incubator/CodeSystem/moleculardefinition-moleculetype",
        "code" : "dna",
        "display" : "DNA sequence"
      }
    ]
  },
  "location" : [
    {
      "sequenceLocation" : {
        "sequenceContext" : {
          🔗 "reference" : "MolecularDefinition/example-sequence-nc00001010-url",
          "type" : "MolecularDefinition",
          "display" : "Starting Sequence Resource: Homo sapiens chromosome 10, GRCh37.p13 Primary Assembly, NC_000010.10"
        },
        "coordinateInterval" : {
          "coordinateSystem" : {
            "system" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "LA30102-0",
                  "display" : "1-based character counting"
                }
              ],
              "text" : "1-based character counting"
            }
          },
          "startQuantity" : {
            "value" : 96522463
          },
          "endQuantity" : {
            "value" : 96522463
          }
        }
      }
    }
  ],
  "representation" : [
    {
      "focus" : "reference-state",
      "literal" : {
        "value" : "A"
      }
    },
    {
      "focus" : "alternative-state",
      "literal" : {
        "value" : "A"
      }
    }
  ]
}