{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA247500",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 388,
          "referenceAllele": "T",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "NP_000194.2:p.Thr388Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA247499",
          "hgvs": "NM_000203.5:c.1163C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146753"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=195857[alleleid]",
        "alleleId": 195857,
        "preferredName": "NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/198696",
        "RCV": [
          "RCV000597524",
          "RCV000723454",
          "RCV001249042"
        ],
        "variationId": 198696
      }
    ]
  },
  "type": "amino-acid"
}