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Canonical Allele Identifier: Get Identifier
Gene: CDKL5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000369325.3:p.[Pro740_Ser750delinsHisGlnArgAlaValLeuGluProThrThrGln;Arg752_Trp759delinsAspAsnGlnHisSerIleHisGly;Ser761_Asn764delinsValLeuLys;Ser766_Glu769delinsLeuValIleGln]
CA645620504
ENST00000379989.6:c.2217del