{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499252964",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 96,
          "referenceAllele": "C",
          "start": 95
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NP_001350624.1:p.Cys96Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA339849198",
          "hgvs": "NM_001363695.2:c.286T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS619911"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1244422[alleleid]",
        "alleleId": 1244422,
        "preferredName": "NM_000310.4(PPT1):c.286T>C (p.Cys96Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1254488",
        "RCV": [
          "RCV001665413",
          "RCV002032636",
          "RCV004526857"
        ],
        "variationId": 1254488
      }
    ]
  },
  "type": "amino-acid"
}