{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829366426",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 2487,
          "referenceAllele": "G",
          "start": 2486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "NP_002213.5:p.Gly2487Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA351649065",
          "hgvs": "NM_002222.7:c.7459G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA351649066",
          "hgvs": "NM_002222.7:c.7459G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168092"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=511499[alleleid]",
        "alleleId": 511499,
        "preferredName": "NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=973375[alleleid]",
        "alleleId": 973375,
        "preferredName": "NM_001378452.1(ITPR1):c.7648G>C (p.Gly2550Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/520945",
        "RCV": [
          "RCV000622722",
          "RCV000764511",
          "RCV000992210",
          "RCV001542743"
        ],
        "variationId": 520945
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/985871",
        "RCV": [
          "RCV001267000"
        ],
        "variationId": 985871
      }
    ]
  },
  "type": "amino-acid"
}