{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830419590",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 92,
          "referenceAllele": "R",
          "start": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000414",
      "geneNCBI_id": 226,
      "geneSymbol": "ALDOA",
      "hgvs": [
        "NP_908930.1:p.Arg92Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8000910",
          "hgvs": "NM_184041.3:c.274C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184805"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1493873[alleleid]",
        "alleleId": 1493873,
        "preferredName": "NM_001243177.4(ALDOA):c.436C>T (p.Arg146Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1433299",
        "RCV": [
          "RCV001944363"
        ],
        "variationId": 1433299
      }
    ]
  },
  "type": "amino-acid"
}