Allele Registry

Canonical Allele Identifier: PA645374969

Gene: CDKL5 HGNC NCBI

ClinVar RCV:

RCV000482764

RCV002526585

ClinVar Variation:

420739

HGVS (amino-acid)	Matching Registered Transcripts
NP_003150.1:p.Arg305Cys	CA16621274 NM_003159.2:c.913C>T