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| Clinical Genomics Work Group | Maturity Level: N/A | Standards Status: Informative | Compartments: Patient |
Raw JSON (canonical form + also see JSON Format Specification)
Example of a TPMT SNP data that support a haplotype observation
{
"resourceType": "MolecularSequence",
"id": "example-TPMT-one",
"text": {
"status": "generated",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative with Details</b></p><p><b>id</b>: example-TPMT-one</p><p><b>type</b>: dna</p><p><b>coordinateSystem</b>: 1</p><p><b>patient</b>: <a>Patient/example</a></p><h3>ReferenceSeqs</h3><table><tr><td>-</td><td><b>ReferenceSeqId</b></td><td><b>Strand</b></td><td><b>WindowStart</b></td><td><b>WindowEnd</b></td></tr><tr><td>*</td><td>NT_007592.15 <span>(Details : {http://www.ncbi.nlm.nih.gov/nuccore code 'NT_007592.15' = 'NT_007592.15)</span></td><td>watson</td><td>18130918</td><td>18143955</td></tr></table><h3>Variants</h3><table><tr><td>-</td><td><b>Start</b></td><td><b>End</b></td><td><b>ObservedAllele</b></td><td><b>ReferenceAllele</b></td></tr><tr><td>*</td><td>18139214</td><td>18139214</td><td>A</td><td>G</td></tr></table><p><b>observedSeq</b>: T-C-C-C-A-C-C-C</p></div>"
},
"type": "dna",
"coordinateSystem": 1,
"patient": {
"reference": "Patient/example"
},
"referenceSeq": {
"referenceSeqId": {
"coding": [
{
"system": "http://www.ncbi.nlm.nih.gov/nuccore",
"code": "NT_007592.15"
}
]
},
"strand": "watson",
"windowStart": 18130918,
"windowEnd": 18143955
},
"variant": [
{
"start": 18139214,
"end": 18139214,
"observedAllele": "A",
"referenceAllele": "G"
}
],
"observedSeq": "T-C-C-C-A-C-C-C"
}
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.