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Canonical Allele Identifier: Get Identifier
Gene: CDKL5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000369332.3:p.[Thr431_Leu434delinsLysValProGlnVal;Ser436_Asn437delinsGlnGlnIle;Arg439_Arg444delinsAlaGluProProLeuIle;Ser446_Glu449delinsGlyLysLeu;Ser451Lys;Lys454_Leu458delinsTrpAspThrAlaAla;Pro460_Asn461del]
CA2695231310
ENST00000379996.7:c.1292_1293del