{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826053979",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 2531,
          "referenceAllele": "V",
          "start": 2530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "NP_001161744.1:p.Val2531Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA351649041",
          "hgvs": "NM_001168272.2:c.7591G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155528"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1692479[alleleid]",
        "alleleId": 1692479,
        "preferredName": "NM_001378452.1(ITPR1):c.7636G>A (p.Val2546Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1700083",
        "RCV": [
          "RCV002274332",
          "RCV002280210"
        ],
        "variationId": 1700083
      }
    ]
  },
  "type": "amino-acid"
}