Allele Registry

Canonical Allele Identifier: PA121528

Gene: CDKL5 HGNC NCBI

ClinVar RCV:

RCV000012260

RCV001203327

RCV002281041

ClinVar Variation:

11505

HGVS (amino-acid)	Matching Registered Transcripts
NP_003150.1:p.Cys291Tyr	CA121527 NM_003159.2:c.872G>A