Moleculardefinition-example-haplotype1.json

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Example MolecularDefinition/example-haplotype1 (JSON)

Clinical Genomics Work Group

Maturity Level: N/A

Standards Status: Informative

Compartments: No defined compartments

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

Simple Haplotype example 1

{
  "resourceType" : "MolecularDefinition",
  "id" : "example-haplotype1",
  "meta" : {
    "profile" : ["http://hl7.org/fhir/StructureDefinition/haplotype"]
  },
  "type" : "dna",
  "location" : [{
    "sequenceLocation" : {
      "sequenceContext" : {
        "reference" : "MolecularDefinition/example-sequence-lrg584",
        "type" : "MolecularDefinition",
        "display" : "Starting Sequence Resource: LRG_584"
      },
      "coordinateInterval" : {
        "numberingSystem" : {
          "coding" : [{
            "system" : "http://loinc.org",
            "code" : "LA30100-4",
            "display" : "0-based interval counting"
          }],
          "text" : "0-based interval counting"
        },
        "startQuantity" : {
          "value" : 5001
        },
        "endQuantity" : {
          "value" : 97867
        }
      }
    }
  }],
  "memberState" : [{
    "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"
  }]
}

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.