{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499252930",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 48,
          "referenceAllele": "W",
          "start": 47
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "NP_001350505.1:p.Trp48Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA91167249",
          "hgvs": "NM_001363576.1:c.143G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618778"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1004985[alleleid]",
        "alleleId": 1004985,
        "preferredName": "NM_000203.5(IDUA):c.539G>C (p.Trp180Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1021968",
        "RCV": [
          "RCV001321820"
        ],
        "variationId": 1021968
      }
    ]
  },
  "type": "amino-acid"
}