Allele Registry

Canonical Allele Identifier: PA093664

Gene: CDKL5 HGNC NCBI

ClinVar RCV:

RCV000012259

ClinVar Variation:

11504

HGVS (amino-acid)	Matching Registered Transcripts
NP_001032420.1:p.Thr288Ile	CA121525 NM_001037343.2:c.863C>T