{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828523746",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 35,
          "referenceAllele": "W",
          "start": 34
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NP_001361424.1:p.Trp35Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA397691390",
          "hgvs": "NM_001374495.1:c.105G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA397691391",
          "hgvs": "NM_001374495.1:c.105G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS707816"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1362296[alleleid]",
        "alleleId": 1362296,
        "preferredName": "NM_004937.3(CTNS):c.546G>T (p.Trp182Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1468051",
        "RCV": [
          "RCV002571228"
        ],
        "variationId": 1468051
      }
    ]
  },
  "type": "amino-acid"
}