{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829709118",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7,
          "referenceAllele": "R",
          "start": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NP_009230.2:p.Arg7Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA001330",
          "hgvs": "NM_007299.4:c.19C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172750"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=45996[alleleid]",
        "alleleId": 45996,
        "preferredName": "NM_007294.4(BRCA1):c.19C>T (p.Arg7Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/37440",
        "RCV": [
          "RCV000031021",
          "RCV000130702",
          "RCV000428757",
          "RCV000758790",
          "RCV001085456",
          "RCV001354707",
          "RCV004554616",
          "RCV003492308"
        ],
        "variationId": 37440
      }
    ]
  },
  "type": "amino-acid"
}