{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573081254",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 306,
          "referenceAllele": "S",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002698",
      "geneNCBI_id": 1629,
      "geneSymbol": "DBT",
      "hgvs": [
        "NP_001909.4:p.Ser306Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA247142",
          "hgvs": "NM_001918.5:c.917C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS738586"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=195636[alleleid]",
        "alleleId": 195636,
        "preferredName": "NM_001918.5(DBT):c.917C>G (p.Ser306Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/198475",
        "RCV": [
          "RCV000179840",
          "RCV003635905"
        ],
        "variationId": 198475
      }
    ]
  },
  "type": "amino-acid"
}