{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829704749",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 18,
          "referenceAllele": "M",
          "start": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001100",
      "geneNCBI_id": 672,
      "geneSymbol": "BRCA1",
      "hgvs": [
        "NP_009229.2:p.Met18Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA003550",
          "hgvs": "NM_007298.3:c.53T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172749"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=46220[alleleid]",
        "alleleId": 46220,
        "preferredName": "NM_007294.4(BRCA1):c.53T>C (p.Met18Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/37664",
        "RCV": [
          "RCV000031245",
          "RCV000131693",
          "RCV000212154",
          "RCV001253789"
        ],
        "variationId": 37664
      }
    ]
  },
  "type": "amino-acid"
}