Canonical Allele Identifier: PA2827187176
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 94113
ClinVar RCV Id: RCV000080074 RCV000169920 RCV001201864 RCV001507061 RCV003488377
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Arg178Gln
CA199289
NM_001323289.2:c.533G>A