Allele Registry

Canonical Allele Identifier: PA2827187592

Gene: CDKL5 HGNC NCBI

ClinVar RCV:

RCV000420425

RCV000503048

RCV001034449

RCV002446647

RCV003448302

RCV004530527

ClinVar Variation:

377094

HGVS (amino-acid)	Matching Registered Transcripts
NP_001310218.1:p.Arg822His	CA10360541 NM_001323289.2:c.2465G>A