{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA353412",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 2580,
          "referenceAllele": "G",
          "start": 2579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "NP_001161744.1:p.Gly2580Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA353411",
          "hgvs": "NM_001168272.2:c.7739G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155528"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=225849[alleleid]",
        "alleleId": 225849,
        "preferredName": "NM_001378452.1(ITPR1):c.7784G>A (p.Gly2595Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/224119",
        "RCV": [
          "RCV000209834",
          "RCV001310467"
        ],
        "variationId": 224119
      }
    ]
  },
  "type": "amino-acid"
}