{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2741940456",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 350,
          "referenceAllele": "C",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NP_039663.1:p.Cys350Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA404320214",
          "hgvs": "NM_013976.3:c.1048T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173380"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2890714[alleleid]",
        "alleleId": 2890714,
        "preferredName": "NM_000159.4(GCDH):c.1048T>C (p.Cys350Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2733254",
        "RCV": [
          "RCV003499878"
        ],
        "variationId": 2733254
      }
    ]
  },
  "type": "amino-acid"
}