Allele Registry

Canonical Allele Identifier: PA2827187278

Gene: CDKL5 HGNC NCBI

ClinVar RCV:

RCV000482764

RCV002526585

ClinVar Variation:

420739

HGVS (amino-acid)	Matching Registered Transcripts
NP_001310218.1:p.Arg305Cys	CA16621274 NM_001323289.2:c.913C>T