{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA260726",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1748,
          "referenceAllele": "G",
          "start": 1747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NP_009225.1:p.Gly1748Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA003383",
          "hgvs": "NM_007294.4:c.5242G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172747"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=46206[alleleid]",
        "alleleId": 46206,
        "preferredName": "NM_007294.4(BRCA1):c.5242G>T (p.Gly1748Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/37650",
        "RCV": [
          "RCV000031231",
          "RCV000473758",
          "RCV000487391",
          "RCV000509724"
        ],
        "variationId": 37650
      }
    ]
  },
  "type": "amino-acid"
}