{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499256008",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 948,
          "referenceAllele": "G",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "NP_001365381.1:p.Gly948Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA351649371",
          "hgvs": "NM_001378452.1:c.2843G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS738048"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1015182[alleleid]",
        "alleleId": 1015182,
        "preferredName": "NM_001378452.1(ITPR1):c.2843G>A (p.Gly948Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1027414",
        "RCV": [
          "RCV001647137"
        ],
        "variationId": 1027414
      }
    ]
  },
  "type": "amino-acid"
}