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 Haplotype 1

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{
  "resourceType" : "MolecularDefinition",
  "resourceDefinition" : "http://hl7.org/fhir/StructureDefinition/MolecularDefinition|0.1.0-ci-build",
  "id" : "example-haplotype1",
  "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-haplotype1</b></p><a name=\"example-haplotype1\"> </a><a name=\"hcexample-haplotype1\"> </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>description</b>: </p><div><p>CYP2C19<em>1B and CYP2C19</em>1.002</p>\n</div><p><b>moleculeType</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/cg-incubator/CodeSystem/moleculardefinition-moleculetype dna}\">DNA sequence</span></p><p><b>member</b>: </p><ul><li><a href=\"MolecularDefinition-example-allele1.html\">First Allele, NG_008384.3:g.5124C&gt;T</a></li><li><a href=\"MolecularDefinition-example-allele2.html\">Second Allele, NG_008384.3:g.85186A&gt;G</a></li></ul><blockquote><p><b>location</b></p><blockquote><p><b>sequenceLocation</b></p><p><b>sequenceContext</b>: <a href=\"MolecularDefinition-example-sequence-lrg584.html\">Starting Sequence Resource: LRG_584</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>: 5001</p><p><b>end</b>: 97867</p></blockquote></blockquote></blockquote></div>"
  },
  "description" : "CYP2C19*1B and CYP2C19*1.002",
  "moleculeType" : {
    "coding" : [
      {
        "system" : "http://hl7.org/fhir/uv/cg-incubator/CodeSystem/moleculardefinition-moleculetype",
        "code" : "dna",
        "display" : "DNA sequence"
      }
    ]
  },
  "member" : [
    {
      🔗 "reference" : "MolecularDefinition/example-allele1",
      "type" : "MolecularDefinition",
      "display" : "First Allele, NG_008384.3:g.5124C>T"
    },
    {
      🔗 "reference" : "MolecularDefinition/example-allele2",
      "type" : "MolecularDefinition",
      "display" : "Second Allele, NG_008384.3:g.85186A>G"
    }
  ],
  "location" : [
    {
      "sequenceLocation" : {
        "sequenceContext" : {
          🔗 "reference" : "MolecularDefinition/example-sequence-lrg584",
          "type" : "MolecularDefinition",
          "display" : "Starting Sequence Resource: LRG_584"
        },
        "coordinateInterval" : {
          "coordinateSystem" : {
            "system" : {
              "coding" : [
                {
                  "system" : "http://loinc.org",
                  "code" : "LA30100-4",
                  "display" : "0-based interval counting"
                }
              ],
              "text" : "0-based interval counting"
            }
          },
          "startQuantity" : {
            "value" : 5001
          },
          "endQuantity" : {
            "value" : 97867
          }
        }
      }
    }
  ]
}