This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: CDKL5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011543872.1:p.[His537_Ser547delinsGlnPheProPheThrValCysThrSerArgIle;Ser549_Leu552delinsPheLeuTrpThr;Tyr554_Ser556delinsLeuHisGln;Phe558_Arg566delinsLeuPhePheProAlaThrSerSer]
CA915950768
XM_011545570.1:c.1610dup