{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916020502",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 204,
          "referenceAllele": "T",
          "start": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NP_001293139.1:p.Thr204Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA008835",
          "hgvs": "NM_001306210.2:c.611C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS166500"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27561[alleleid]",
        "alleleId": 27561,
        "preferredName": "NM_004612.4(TGFBR1):c.599C>T (p.Thr200Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12522",
        "RCV": [
          "RCV000013347"
        ],
        "variationId": 12522
      }
    ]
  },
  "type": "amino-acid"
}