{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829707397",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 586,
          "referenceAllele": "K",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NP_009229.2:p.Lys586Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA003183",
          "hgvs": "NM_007298.3:c.1756A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172749"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=70037[alleleid]",
        "alleleId": 70037,
        "preferredName": "NM_007294.4(BRCA1):c.5068A>C (p.Lys1690Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/55370",
        "RCV": [
          "RCV000048756",
          "RCV000077592",
          "RCV000130370",
          "RCV000240688",
          "RCV000225765",
          "RCV000656791",
          "RCV000765357",
          "RCV001353418"
        ],
        "variationId": 55370
      }
    ]
  },
  "type": "amino-acid"
}