{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827187265",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 288,
          "referenceAllele": "T",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NP_001310218.1:p.Thr288Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA412355847",
          "hgvs": "NM_001323289.2:c.863C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS648160"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1936577[alleleid]",
        "alleleId": 1936577,
        "preferredName": "NM_001323289.2(CDKL5):c.863C>G (p.Thr288Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1879751",
        "RCV": [
          "RCV002512396",
          "RCV003776058"
        ],
        "variationId": 1879751
      }
    ]
  },
  "type": "amino-acid"
}