Allele Registry

Canonical Allele Identifier: PA2827187110

Gene: CDKL5 HGNC NCBI

ClinVar RCV:

RCV000489913

ClinVar Variation:

427062

HGVS (amino-acid)	Matching Registered Transcripts
NP_001310218.1:p.Ile131Met	CA412350393 NM_001323289.2:c.393T>G