{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA100404",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 565,
          "referenceAllele": "R",
          "start": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007632",
      "geneNCBI_id": 4669,
      "geneSymbol": "NAGLU",
      "hgvs": [
        "NP_000254.2:p.Arg565Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA129472",
          "hgvs": "NM_000263.4:c.1694G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146810"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39752[alleleid]",
        "alleleId": 39752,
        "preferredName": "NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30795",
        "RCV": [
          "RCV000023780",
          "RCV000433629",
          "RCV000590258",
          "RCV001043861"
        ],
        "variationId": 30795
      }
    ]
  },
  "type": "amino-acid"
}