{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827187268",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 291,
          "referenceAllele": "C",
          "start": 290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NP_001310218.1:p.Cys291Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA121527",
          "hgvs": "NM_001323289.2:c.872G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS648160"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26544[alleleid]",
        "alleleId": 26544,
        "preferredName": "NM_001323289.2(CDKL5):c.872G>A (p.Cys291Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11505",
        "RCV": [
          "RCV000012260",
          "RCV001203327",
          "RCV002281041"
        ],
        "variationId": 11505
      }
    ]
  },
  "type": "amino-acid"
}