Allele Registry

Canonical Allele Identifier: PA121526

Gene: CDKL5 HGNC NCBI

ClinVar RCV:

RCV000012259

ClinVar Variation:

11504

HGVS (amino-acid)	Matching Registered Transcripts
NP_003150.1:p.Thr288Ile	CA121525 NM_003159.2:c.863C>T