{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645418140",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 1820,
          "referenceAllele": "L",
          "start": 1819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "NP_001161744.1:p.Leu1820Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA351639406",
          "hgvs": "NM_001168272.2:c.5459T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155528"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=247430[alleleid]",
        "alleleId": 247430,
        "preferredName": "NM_001378452.1(ITPR1):c.5504T>C (p.Leu1835Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/253023",
        "RCV": [
          "RCV000491057"
        ],
        "variationId": 253023
      }
    ]
  },
  "type": "amino-acid"
}