{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658826981",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 570,
          "referenceAllele": "D",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005391",
      "geneNCBI_id": 3425,
      "geneSymbol": "IDUA",
      "hgvs": [
        "NP_000194.2:p.Asp570His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA355965252",
          "hgvs": "NM_000203.5:c.1708G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146753"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=543314[alleleid]",
        "alleleId": 543314,
        "preferredName": "NM_000203.5(IDUA):c.1708G>C (p.Asp570His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/551300",
        "RCV": [
          "RCV000666323",
          "RCV002530678"
        ],
        "variationId": 551300
      }
    ]
  },
  "type": "amino-acid"
}