{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916013395",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 53,
          "referenceAllele": "C",
          "start": 52
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "NP_001269478.1:p.Cys53Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA350462334",
          "hgvs": "NM_001282549.2:c.159T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162503"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=472676[alleleid]",
        "alleleId": 472676,
        "preferredName": "NM_000465.4(BARD1):c.159T>G (p.Cys53Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/482813",
        "RCV": [
          "RCV000572806",
          "RCV001257154"
        ],
        "variationId": 482813
      }
    ]
  },
  "type": "amino-acid"
}