{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573075153",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 602,
          "referenceAllele": "N",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "NP_001365381.1:p.Asn602Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA261185",
          "hgvs": "NM_001378452.1:c.1804A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS738048"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48171[alleleid]",
        "alleleId": 48171,
        "preferredName": "NM_001378452.1(ITPR1):c.1804A>G (p.Asn602Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/39572",
        "RCV": [
          "RCV000032772"
        ],
        "variationId": 39572
      }
    ]
  },
  "type": "amino-acid"
}