AI304-NC_000011.10-g.6608803A>G-b38
XML
<?xml version="1.0" encoding="UTF-8"?>
<ContextualAllele xmlns="http://clingen.org/dm/allele/v1"
xmlns:f="http://hl7.org/fhir" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance"
xsi:schemaLocation="http://clingen.org/dm/allele/v1 ../clingen-xsd/contextualallele.xsd ">
<f:id value="AI304"></f:id>
<canonicalAllele>
<f:reference value="CanonicalAllele/CA401"></f:reference>
</canonicalAllele>
<contextualAlleleType value="genomic"></contextualAlleleType>
<allele value="G"></allele>
<primaryNucleotideChangeType>
<f:coding>
<f:system value="http://www.sequenceontology.org/"></f:system>
<f:code value="SO:1000002"></f:code>
<f:display value="substitution"></f:display>
<f:primary value="true"></f:primary>
</f:coding>
</primaryNucleotideChangeType>
<alleleName>
<nameType value="hgvs-genomic"></nameType>
<name value="NC_000011.10:g.6608803A>G"></name>
</alleleName>
<referenceCoordinate>
<referenceSequence>
<f:reference value="ReferenceSequence/RS203"></f:reference>
<f:display value="NC_000011.10"></f:display>
</referenceSequence>
<start>
<index value="6608802"></index>
</start>
<end>
<index value="6608803"></index>
</end>
<refAllele value="A"></refAllele>
</referenceCoordinate>
</ContextualAllele>
example: AI304-NC_000011.10-g.6608803A>G-b38.xml
schema: ContextualAllele.xsd
JSON
{
"id": "AI304",
"canonicalAllele":
{
"reference": "CanonicalAllele/CA401"
},
"contextualAlleleType": "genomic",
"allele": "G",
"primaryNucleotideChangeType":
{
"coding":
[
{
"system": "http://www.sequenceontology.org/",
"code": "SO:1000002",
"display": "substitution",
"primary": "true"
}
]
},
"alleleName":
[
{
"nameType": "hgvs-genomic",
"name": "NC_000011.10:g.6608803A>G"
}
],
"referenceCoordinate":
{
"referenceSequence":
{
"reference": "ReferenceSequence/RS203",
"display": "NC_000011.10"
},
"start":
{
"index": "6608802"
},
"end":
{
"index": "6608803"
},
"refAllele": "A"
}
}