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Canonical Allele Identifier: Get Identifier
Gene: CDKL5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011543872.1:p.[Thr387_Leu390delinsLysValProGlnVal;Ser392_Asn393delinsGlnGlnIle;Arg395_Arg400delinsAlaGluProProLeuIle;Ser402_Glu405delinsGlyLysLeu;Ser407Lys;Lys410_Leu414delinsTrpAspThrAlaAla;Pro416_Asn417del]
CA2695231310
XM_011545570.1:c.1160_1161del