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.[Thr484_Thr487delinsProAlaGlnPro;Thr489_Asp493delinsProAspThrVal;Thr496Glu;Leu498Cys;Pro500_Ser513delinsAlaLeuLeuGluGluIleThrGluMetArgGluArgTrpThr]
CA2695231302
XM_011545570.1:c.1449del