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This is the Continuous Integration Build of FHIR (will be incorrect/inconsistent at times).
See the Directory of published versions

Example MolecularDefinition/example-sequence-cyp2c19-gene-region (JSON)

Clinical Genomics Work GroupMaturity Level: N/AStandards Status: InformativeCompartments: No defined compartments

Raw JSON (canonical form + also see JSON Format Specification)

Example of Sequence profile of CYP2C19 gene region

{
  "resourceType" : "MolecularDefinition",
  "id" : "example-sequence-cyp2c19-gene-region",
  "meta" : {
    "profile" : ["http://hl7.org/fhir/StructureDefinition/sequence"]
  },
  "type" : "dna",
  "representation" : [{
    "extracted" : {
      "startingMolecule" : {
        "reference" : "MolecularDefinition/example-sequence-cyp2c19-accession",
        "type" : "MolecularDefinition",
        "display" : "Homo sapiens cytochrome P450 family 2 subfamily C member 19 (CYP2C19), RefSeqGene (LRG_584) on chromosome 10"
      },
      "start" : 5001,
      "end" : 97867,
      "coordinateSystem" : {
        "coding" : [{
          "system" : "http://loinc.org",
          "code" : "LA30100-4",
          "display" : "0-based interval counting"
        }],
        "text" : "0-based interval counting"
      },
      "reverseComplement" : false
    }
  }]
}

Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.