{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825582260",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 246,
          "referenceAllele": "R",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004837",
      "geneNCBI_id": 3052,
      "geneSymbol": "HCCS",
      "hgvs": [
        "NP_001116080.1:p.Arg246Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA412055828",
          "hgvs": "NM_001122608.3:c.736C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151854"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1310554[alleleid]",
        "alleleId": 1310554,
        "preferredName": "NM_005333.5(HCCS):c.736C>T (p.Arg246Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1320309",
        "RCV": [
          "RCV001775481"
        ],
        "variationId": 1320309
      }
    ]
  },
  "type": "amino-acid"
}