{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA100425",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 565,
          "referenceAllele": "R",
          "start": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007632",
      "geneNCBI_id": 4669,
      "geneSymbol": "NAGLU",
      "hgvs": [
        "NP_000254.2:p.Arg565Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA115050",
          "hgvs": "NM_000263.4:c.1693C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146810"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16606[alleleid]",
        "alleleId": 16606,
        "preferredName": "NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1567",
        "RCV": [
          "RCV000001633",
          "RCV001223228",
          "RCV002269255"
        ],
        "variationId": 1567
      }
    ]
  },
  "type": "amino-acid"
}