{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA913196736",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 396,
          "referenceAllele": "R",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011777",
      "geneNCBI_id": 7051,
      "geneSymbol": "TGM1",
      "hgvs": [
        "NP_000350.1:p.Arg396Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7131152",
          "hgvs": "NM_000359.3:c.1186C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146903"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=622239[alleleid]",
        "alleleId": 622239,
        "preferredName": "NM_000359.3(TGM1):c.1186C>T (p.Arg396Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/633787",
        "RCV": [
          "RCV000782372",
          "RCV001576631",
          "RCV004525838"
        ],
        "variationId": 633787
      }
    ]
  },
  "type": "amino-acid"
}