{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829717127",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 52,
          "referenceAllele": "L",
          "start": 51
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NP_009231.2:p.Leu52Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA001039",
          "hgvs": "NM_007300.4:c.154C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172751"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=45977[alleleid]",
        "alleleId": 45977,
        "preferredName": "NM_007294.4(BRCA1):c.154C>T (p.Leu52Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/37421",
        "RCV": [
          "RCV000031002",
          "RCV000164750",
          "RCV000236664",
          "RCV000588129",
          "RCV001085660",
          "RCV001798025",
          "RCV003153309"
        ],
        "variationId": 37421
      }
    ]
  },
  "type": "amino-acid"
}