{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828788183",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1438,
          "referenceAllele": "R",
          "start": 1437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "NP_001365546.1:p.Arg1438Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2864389",
          "hgvs": "NM_001378617.1:c.4312C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS737961"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=239341[alleleid]",
        "alleleId": 239341,
        "preferredName": "NM_001378615.1(CC2D2A):c.4459C>T (p.Arg1487Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/238281",
        "RCV": [
          "RCV000229439",
          "RCV000385807",
          "RCV000318552",
          "RCV000319463"
        ],
        "variationId": 238281
      }
    ]
  },
  "type": "amino-acid"
}