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Canonical Allele Identifier: Get Identifier
Gene: CDKL5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011543871.1:p.[Gly413_Thr414delinsArgAsp;Tyr416_Leu417delinsValProGlnVal;Ser419_Asn420delinsGlnGlnIle;Arg422_Arg427delinsAlaGluProProLeuIle;Ser429_Glu432delinsGlyLysLeu;Ser434Lys;Lys437_Gly439delinsTrpAsp;Leu441_Gln442delinsAla]
CA2740092028
XM_011545569.1:c.1236dup