Allele Registry

Canonical Allele Identifier: PA2827187007

Gene: CDKL5 HGNC NCBI

ClinVar RCV:

RCV000133379

RCV002515935

ClinVar Variation:

143828

HGVS (amino-acid)	Matching Registered Transcripts
NP_001310218.1:p.Gly20Arg	CA170496 NM_001323289.2:c.58G>C