{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573059051",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1722,
          "referenceAllele": "S",
          "start": 1721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "NP_000050.3:p.Ser1722Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA021504",
          "hgvs": "NM_000059.4:c.5164A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS735694"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=46504[alleleid]",
        "alleleId": 46504,
        "preferredName": "NM_000059.4(BRCA2):c.5164A>T (p.Ser1722Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/37948",
        "RCV": [
          "RCV000031529",
          "RCV000218602",
          "RCV000637658",
          "RCV001800326",
          "RCV001787821",
          "RCV002247403"
        ],
        "variationId": 37948
      }
    ]
  },
  "type": "amino-acid"
}