{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA204909",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 267,
          "referenceAllele": "T",
          "start": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "NP_002213.5:p.Thr267Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA204907",
          "hgvs": "NM_002222.7:c.800C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168092"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=205242[alleleid]",
        "alleleId": 205242,
        "preferredName": "NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/208786",
        "RCV": [
          "RCV000190812",
          "RCV000677366",
          "RCV001552791",
          "RCV003152595"
        ],
        "variationId": 208786
      }
    ]
  },
  "type": "amino-acid"
}