{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3057322145",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 538,
          "referenceAllele": "T",
          "start": 537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NP_003150.1:p.Thr538Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA412361958",
          "hgvs": "NM_003159.2:c.1612A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168973"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3503228[alleleid]",
        "alleleId": 3503228,
        "preferredName": "NM_001323289.2(CDKL5):c.1612A>G (p.Thr538Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3343996",
        "RCV": [
          "RCV004727787"
        ],
        "variationId": 3343996
      }
    ]
  },
  "type": "amino-acid"
}