{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915972910",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 1144,
          "referenceAllele": "M",
          "start": 1143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "NP_001093422.2:p.Met1144Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2231667",
          "hgvs": "NM_001099952.4:c.3430A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151318"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=290723[alleleid]",
        "alleleId": 290723,
        "preferredName": "NM_001378452.1(ITPR1):c.3457A>G (p.Met1153Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/345726",
        "RCV": [
          "RCV000363994",
          "RCV000415780",
          "RCV000677357"
        ],
        "variationId": 345726
      }
    ]
  },
  "type": "amino-acid"
}