Allele Registry

Canonical Allele Identifier: PA645374832

Gene: CDKL5 HGNC NCBI

ClinVar RCV:

RCV000478501

ClinVar Variation:

420841

HGVS (amino-acid)	Matching Registered Transcripts
NP_003150.1:p.Arg175Ile	CA16621270 NM_003159.2:c.524G>T