{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA249517",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 1040,
          "referenceAllele": "S",
          "start": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NP_009225.1:p.Ser1040Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA002038",
          "hgvs": "NM_007294.4:c.3119G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172747"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32709[alleleid]",
        "alleleId": 32709,
        "preferredName": "NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17670",
        "RCV": [
          "RCV000019239",
          "RCV000034739",
          "RCV000048074",
          "RCV000120293",
          "RCV000128951",
          "RCV000456692",
          "RCV002476991"
        ],
        "variationId": 17670
      }
    ]
  },
  "type": "amino-acid"
}