Allele Registry

Canonical Allele Identifier: PA1139701054

Gene: CDKL5 HGNC NCBI

ClinVar RCV:

RCV001230939

ClinVar Variation:

957873

HGVS (amino-acid)	Matching Registered Transcripts
NP_003150.1:p.Arg175Thr	CA412352453 NM_003159.2:c.524G>C