{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829365836",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 1450,
          "referenceAllele": "T",
          "start": 1449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "NP_002213.5:p.Thr1450Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2231990",
          "hgvs": "NM_002222.7:c.4349C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168092"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=793021[alleleid]",
        "alleleId": 793021,
        "preferredName": "NM_001378452.1(ITPR1):c.4421C>T (p.Thr1474Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/804937",
        "RCV": [
          "RCV000992197",
          "RCV001147931",
          "RCV001251784",
          "RCV001262674",
          "RCV002549783",
          "RCV003943298"
        ],
        "variationId": 804937
      }
    ]
  },
  "type": "amino-acid"
}