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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.[Pro359_Leu361delinsHisThrPhe;Ser363_Pro364delinsAlaGln;Glu366_Ser369delinsLysProSerGln;Thr371_Pro385delinsGlnSerLeuIleLeuIleLeuThrGlnSerLeuGlnLysAlaGln;Thr387_Lys388delinsGlnSer]
CA2580100406
XM_011545570.1:c.1076del