{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829687438",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 202,
          "referenceAllele": "T",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NP_009228.2:p.Thr202Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA003847",
          "hgvs": "NM_007297.4:c.604A>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA10600592",
          "hgvs": "NM_007297.4:c.605C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172748"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=46252[alleleid]",
        "alleleId": 46252,
        "preferredName": "NM_007294.4(BRCA1):c.745A>T (p.Thr249Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/37696",
        "RCV": [
          "RCV000031277",
          "RCV000221443",
          "RCV000590556",
          "RCV001063586"
        ],
        "variationId": 37696
      }
    ]
  },
  "type": "amino-acid"
}