This is the Continuous Integration Build of FHIR (will be incorrect/inconsistent at times).
See the Directory of published versions
Example of Variation of CYP2C19 at Position 1016 as VCF
{
"resourceType" : "MolecularDefinition",
"id" : "example-variation-cyp2c19-1016-vcf",
"moleculeType" : {
"coding" : [{
"system" : "http://hl7.org/fhir/sequence-type",
"code" : "dna",
"display" : "DNA Sequence"
}]
},
"location" : [{
"sequenceLocation" : {
"sequenceContext" : {
"reference" : "MolecularDefinition/example-sequence-nm0007694-url",
"type" : "MolecularDefinition",
"display" : "Starting Sequence Resource: (CYP2C19), mRNA, NM_000769.4"
},
"coordinateInterval" : {
"coordinateSystem" : {
"system" : {
"coding" : [{
"system" : "http://loinc.org",
"code" : "LA30102-0",
"display" : "1-based character counting"
}],
"text" : "1-based character counting"
}
},
"startQuantity" : {
"value" : 1016
}
}
}
}],
"representation" : [{
"focus" : {
"coding" : [{
"code" : "reference-state",
"display" : "Reference State"
}]
},
"literal" : {
"value" : "A"
}
},
{
"focus" : {
"coding" : [{
"code" : "alternative-state",
"display" : "Alternative State"
}]
},
"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.