Sequence-genetics-example3.json

Example for RNA sequence variant and expression

{
  "resourceType": "Sequence",
  "id": "seq3",
  "text": {
    "status": "generated",
    "div": "<div><p><b>Generated Narrative with Details</b></p><p><b>id</b>: seq3</p><p><b>type</b>: RNA</p><p><b>variationID</b>: rs58238562 <span>(Details : {http://www.ncbi.nlm.nih.gov/projects/SNP code '58238562' = '??)</span></p><p><b>referenceSeq</b>: Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA <span>(Details : {http://www.ncbi.nlm.nih.gov/nuccore/ code 'NM_000927.4' = '??', given as 'Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA'})</span></p><p><b>quantity</b>: 23 Transcripts per million(TPM)</p><p><b>species</b>: Homo sapiens <span>(Details : {SNOMED CT code '337915000' = '??)</span></p></div>"
  },
  "type": "RNA",
  "variationID": [
    {
      "coding": [
        {
          "system": "http://www.ncbi.nlm.nih.gov/projects/SNP",
          "code": "58238562"
        }
      ],
      "text": "rs58238562"
    }
  ],
  "referenceSeq": {
    "coding": [
      {
        "system": "http://www.ncbi.nlm.nih.gov/nuccore/",
        "code": "NM_000927.4",
        "display": "Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA"
      }
    ]
  },
  "quantity": {
    "value": 23,
    "unit": "Transcripts per million(TPM)"
  },
  "species": {
    "coding": [
      {
        "system": "http://snomed.info/sct",
        "code": "337915000"
      }
    ],
    "text": "Homo sapiens"
  }
}