{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573208218",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 73,
          "referenceAllele": "C",
          "start": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "NP_001350505.1:p.Cys73Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA355961928",
          "hgvs": "NM_001363576.1:c.218G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618778"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1359234[alleleid]",
        "alleleId": 1359234,
        "preferredName": "NM_000203.5(IDUA):c.614G>A (p.Cys205Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1468875",
        "RCV": [
          "RCV001961290"
        ],
        "variationId": 1468875
      }
    ]
  },
  "type": "amino-acid"
}