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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.[Gln341dup;Ser343Ala;Gln345_Pro346delinsLeu;Ser348_Ser350delinsLeuProAla;Asp352_Leu361delinsIleSerProThrThrThrTyrHisThrPhe;Ser363_Pro364delinsAlaGln;Glu366_Ser369delinsLysProSerGln;Thr371Gln]
CA2695231305
XM_011545570.1:c.1024del