Allele Registry

Canonical Allele Identifier: PA170501

Gene: CDKL5 HGNC NCBI

ClinVar RCV:

RCV000133381

RCV000640488

ClinVar Variation:

143830

HGVS (amino-acid)	Matching Registered Transcripts
NP_003150.1:p.Leu220Pro	CA170500 NM_003159.2:c.659T>C