{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573164412",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 325,
          "referenceAllele": "W",
          "start": 324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010818",
      "geneNCBI_id": 6448,
      "geneSymbol": "SGSH",
      "hgvs": [
        "NP_000190.1:p.Trp325Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA294891180",
          "hgvs": "NM_000199.5:c.975G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA401359403",
          "hgvs": "NM_000199.5:c.975G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146749"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1339168[alleleid]",
        "alleleId": 1339168,
        "preferredName": "NM_000199.5(SGSH):c.975G>T (p.Trp325Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1476395",
        "RCV": [
          "RCV002008114"
        ],
        "variationId": 1476395
      }
    ]
  },
  "type": "amino-acid"
}