Allele Registry

Canonical Allele Identifier: PA2827187054

Gene: CDKL5 HGNC NCBI

ClinVar Allele:

153523

ClinVar RCV:

RCV000133338

RCV000145527

RCV001849962

ClinVar Variation:

143791

HGVS (amino-acid)	Matching Registered Transcripts
NP_001310218.1:p.Leu67Phe	CA170464 NM_001323289.2:c.199C>T