Allele Registry

Canonical Allele Identifier: PA645374785

Gene: CDKL5 HGNC NCBI

ClinVar RCV:

RCV000489913

ClinVar Variation:

427062

HGVS (amino-acid)	Matching Registered Transcripts
NP_003150.1:p.Ile131Met	CA412350393 NM_003159.2:c.393T>G