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See the Directory of published versions
Example of Allele profile including slices for CYP2C19 As Literal
{
"resourceType" : "MolecularDefinition",
"id" : "example-allelesliced-cyp2c19-literal-only",
"meta" : {
"profile" : ["http://hl7.org/fhir/StructureDefinition/allelesliced"]
},
"type" : "dna",
"location" : [{
"sequenceLocation" : {
"sequenceContext" : {
"reference" : "MolecularDefinition/example-sequence-nm0007694-url",
"type" : "MolecularDefinition",
"display" : "Starting Sequence Resource: (CYP2C19), mRNA, NM_000769.4"
},
"coordinateInterval" : {
"numberingSystem" : {
"coding" : [{
"system" : "http://loinc.org",
"code" : "LA30100-4",
"display" : "0-based interval counting"
}],
"text" : "0-based interval counting"
},
"startQuantity" : {
"value" : 1015
},
"endQuantity" : {
"value" : 1016
}
}
}
}],
"representation" : [{
"focus" : {
"coding" : [{
"system" : "http://hl7.org/fhir/moleculardefinition-focus",
"code" : "allele-state",
"display" : "Allele State"
}]
},
"code" : [{
"coding" : [{
"system" : "https://www.pharmvar.org",
"code" : "*1",
"display" : "*1"
}]
}],
"literal" : {
"value" : "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.