Sequence-genetics-example5.json

Example for amino acid variant from experiment

{
  "resourceType": "Sequence",
  "id": "seq5",
  "text": {
    "status": "generated",
    "div": "<div><p><b>Generated Narrative with Details</b></p><p><b>id</b>: seq5</p><p><b>type</b>: AA</p><p><b>referenceSeq</b>: ENSP00000252486 <span>(Details : {http://www.ensembl.org/ code 'ENSP00000252486' = '??)</span></p><h3>Coordinates</h3><table><tr><td>-</td><td><b>Start</b></td><td><b>End</b></td></tr><tr><td>*</td><td>46</td><td>47</td></tr></table><p><b>species</b>: Homo sapiens <span>(Details : {SNOMED CT code '337915000' = '??)</span></p><p><b>observedAllele</b>: L</p><p><b>referenceAllele</b>: P</p></div>"
  },
  "type": "AA",
  "referenceSeq": {
    "coding": [
      {
        "system": "http://www.ensembl.org/",
        "code": "ENSP00000252486"
      }
    ],
    "text": "ENSP00000252486"
  },
  "coordinate": [
    {
      "start": 46,
      "end": 47
    }
  ],
  "species": {
    "coding": [
      {
        "system": "http://snomed.info/sct",
        "code": "337915000"
      }
    ],
    "text": "Homo sapiens"
  },
  "observedAllele": "L",
  "referenceAllele": "P"
}