{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828097273",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 215,
          "referenceAllele": "S",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "NP_001350505.1:p.Ser215Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA355963126",
          "hgvs": "NM_001363576.1:c.643A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA355963129",
          "hgvs": "NM_001363576.1:c.645C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA355963131",
          "hgvs": "NM_001363576.1:c.645C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618778"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1055391[alleleid]",
        "alleleId": 1055391,
        "preferredName": "NM_000203.5(IDUA):c.1039A>C (p.Ser347Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1067172",
        "RCV": [
          "RCV001378364",
          "RCV003132487"
        ],
        "variationId": 1067172
      }
    ]
  },
  "type": "amino-acid"
}