{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828788218",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1462,
          "referenceAllele": "W",
          "start": 1461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "NP_001365546.1:p.Trp1462Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2864409",
          "hgvs": "NM_001378617.1:c.4386G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA356433795",
          "hgvs": "NM_001378617.1:c.4386G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS737961"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=259783[alleleid]",
        "alleleId": 259783,
        "preferredName": "NM_001378615.1(CC2D2A):c.4533G>C (p.Trp1511Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/265073",
        "RCV": [
          "RCV000255224",
          "RCV003235165"
        ],
        "variationId": 265073
      }
    ]
  },
  "type": "amino-acid"
}