{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826652666",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 647,
          "referenceAllele": "Q",
          "start": 646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000952",
      "geneNCBI_id": 580,
      "geneSymbol": "BARD1",
      "hgvs": [
        "NP_001269472.1:p.Gln647Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA350451093",
          "hgvs": "NM_001282543.2:c.1939C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162497"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1041020[alleleid]",
        "alleleId": 1041020,
        "preferredName": "NM_000465.4(BARD1):c.1996C>G (p.Gln666Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1055565",
        "RCV": [
          "RCV001364257",
          "RCV002420800"
        ],
        "variationId": 1055565
      }
    ]
  },
  "type": "amino-acid"
}