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
NP_001310218.1:p.[Ser741_Ser750delinsGlnArgAlaValLeuGluProThrThrGln;Arg752_Trp759delinsAspAsnGlnHisSerIleHisGly;Ser761_Asn764delinsValLeuLys;Ser766_Gln770delinsLeuValIleGlnSer]
CA2579563002
NM_001323289.2:c.2220del