Allele Registry

Canonical Allele Identifier: PA2825380124

Gene: CDKL5 HGNC NCBI

ClinVar RCV:

RCV000169988

RCV000622992

ClinVar Variation:

189549

HGVS (amino-acid)	Matching Registered Transcripts
NP_001032420.1:p.Gln219Pro	CA199370 NM_001037343.2:c.656A>C