Allele Registry

Canonical Allele Identifier: PA093616

Gene: CDKL5 HGNC NCBI

ClinVar RCV:

RCV000133366

RCV000169914

RCV001071921

RCV004528868

ClinVar Variation:

143818

HGVS (amino-acid)	Matching Registered Transcripts
NP_001032420.1:p.His127Arg	CA199281 NM_001037343.2:c.380A>G