Allele Registry

Canonical Allele Identifier: PA2827187138

Gene: CDKL5 HGNC NCBI

ClinVar RCV:

RCV000585869

RCV002530871

ClinVar Variation:

495236

HGVS (amino-acid)	Matching Registered Transcripts
NP_001310218.1:p.Cys152Tyr	CA412351052 NM_001323289.2:c.455G>A