{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3057346229",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 1251,
          "referenceAllele": "C",
          "start": 1250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NP_009231.2:p.Cys1251Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10594468",
          "hgvs": "NM_007300.4:c.3752G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA10594470",
          "hgvs": "NM_007300.4:c.3751T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172751"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3499453[alleleid]",
        "alleleId": 3499453,
        "preferredName": "NM_007294.4(BRCA1):c.3751T>A (p.Cys1251Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3340195",
        "RCV": [
          "RCV004719447"
        ],
        "variationId": 3340195
      }
    ]
  },
  "type": "amino-acid"
}