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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.[Gly386_Thr387delinsArgAsp;Tyr389_Leu390delinsValProGlnVal;Ser392_Asn393delinsGlnGlnIle;Arg395_Arg400delinsAlaGluProProLeuIle;Ser402_Glu405delinsGlyLysLeu;Ser407Lys;Lys410_Gly412delinsTrpAsp;Leu414_Gln415delinsAla]
CA2740092028
XM_011545570.1:c.1155dup