{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA199282",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 127,
          "referenceAllele": "H",
          "start": 126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NP_003150.1:p.His127Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA199281",
          "hgvs": "NM_003159.2:c.380A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168973"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=153550[alleleid]",
        "alleleId": 153550,
        "preferredName": "NM_001323289.2(CDKL5):c.380A>G (p.His127Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/143818",
        "RCV": [
          "RCV000133366",
          "RCV000169914",
          "RCV001071921",
          "RCV004528868"
        ],
        "variationId": 143818
      }
    ]
  },
  "type": "amino-acid"
}