{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828097304",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 231,
          "referenceAllele": "R",
          "start": 230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "NP_001350505.1:p.Arg231Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2802184",
          "hgvs": "NM_001363576.1:c.691C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618778"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=543320[alleleid]",
        "alleleId": 543320,
        "preferredName": "NM_000203.5(IDUA):c.1087C>T (p.Arg363Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/557205",
        "RCV": [
          "RCV000673313",
          "RCV001784281",
          "RCV001868270"
        ],
        "variationId": 557205
      }
    ]
  },
  "type": "amino-acid"
}