{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573055952",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 372,
          "referenceAllele": "N",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001101",
      "geneNCBI_id": 675,
      "geneSymbol": "BRCA2",
      "hgvs": [
        "NP_000050.3:p.Asn372His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA010835",
          "hgvs": "NM_000059.4:c.1114A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS735694"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24368[alleleid]",
        "alleleId": 24368,
        "preferredName": "NM_000059.4(BRCA2):c.1114A>C (p.Asn372His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9329",
        "RCV": [
          "RCV000009916",
          "RCV000034427",
          "RCV000120303",
          "RCV000130720",
          "RCV000207052",
          "RCV000320173",
          "RCV000260146",
          "RCV000468776",
          "RCV000768560",
          "RCV002476952"
        ],
        "variationId": 9329
      }
    ]
  },
  "type": "amino-acid"
}