{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826898821",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 193,
          "referenceAllele": "T",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014214",
      "geneNCBI_id": 23152,
      "geneSymbol": "CIC",
      "hgvs": [
        "NP_001291744.1:p.Thr193Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9471555",
          "hgvs": "NM_001304815.2:c.577A>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA406082559",
          "hgvs": "NM_001304815.2:c.578C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS166286"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=971484[alleleid]",
        "alleleId": 971484,
        "preferredName": "NM_001386298.1(CIC):c.577A>T (p.Thr193Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/983341",
        "RCV": [
          "RCV001263283",
          "RCV001702094",
          "RCV002471068"
        ],
        "variationId": 983341
      }
    ]
  },
  "type": "amino-acid"
}