{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499265508",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 614,
          "referenceAllele": "R",
          "start": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NP_004002.3:p.Arg614Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10378586",
          "hgvs": "NM_004011.4:c.1840C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709517"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1166449[alleleid]",
        "alleleId": 1166449,
        "preferredName": "NM_004006.3(DMD):c.5863C>T (p.Arg1955Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1176295",
        "RCV": [
          "RCV001531764",
          "RCV002359155",
          "RCV002495860",
          "RCV002568898"
        ],
        "variationId": 1176295
      }
    ]
  },
  "type": "amino-acid"
}