{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA100433",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 643,
          "referenceAllele": "R",
          "start": 642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007632",
      "geneNCBI_id": 4669,
      "geneSymbol": "NAGLU",
      "hgvs": [
        "NP_000254.2:p.Arg643Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA115048",
          "hgvs": "NM_000263.4:c.1927C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146810"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16604[alleleid]",
        "alleleId": 16604,
        "preferredName": "NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1565",
        "RCV": [
          "RCV000001631",
          "RCV001030808",
          "RCV001214750",
          "RCV001579503"
        ],
        "variationId": 1565
      }
    ]
  },
  "type": "amino-acid"
}