{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829994844",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 254,
          "referenceAllele": "R",
          "start": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011997",
      "geneNCBI_id": 64222,
      "geneSymbol": "TOR3A",
      "hgvs": [
        "NP_071766.2:p.Arg254Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1264229",
          "hgvs": "NM_022371.4:c.760C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177825"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3347091[alleleid]",
        "alleleId": 3347091,
        "preferredName": "NM_022371.4(TOR3A):c.760C>T (p.Arg254Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3181324",
        "RCV": [
          "RCV004468191"
        ],
        "variationId": 3181324
      }
    ]
  },
  "type": "amino-acid"
}