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Canonical Allele Identifier: Get Identifier
Gene: CDKL5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003150.1:p.[Gln385dup;Ser387Ala;Gln389_Pro390delinsLeu;Ser392_Ser394delinsLeuProAla;Asp396_Leu405delinsIleSerProThrThrThrTyrHisThrPhe;Ser407_Pro408delinsAlaGln;Glu410_Ser413delinsLysProSerGln;Thr415Gln]
CA2695231305
NM_003159.2:c.1156del