{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645475661",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 828,
          "referenceAllele": "R",
          "start": 827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "NP_001073991.2:p.Arg828Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2863930",
          "hgvs": "NM_001080522.2:c.2483G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150740"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=271483[alleleid]",
        "alleleId": 271483,
        "preferredName": "NM_001378615.1(CC2D2A):c.2483G>A (p.Arg828Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/287246",
        "RCV": [
          "RCV000402581",
          "RCV001202071",
          "RCV001334751"
        ],
        "variationId": 287246
      }
    ]
  },
  "type": "amino-acid"
}