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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.[Phe430_Ser436delinsLeuTrpLysAlaLeuLysAla;Ala438Leu;Thr440_Gln442delinsHisCysSer;Asn444_Glu445delinsMet;Gln447del;His450_Tyr452delinsValGlyIleAla;Asp454Leu;Ile456_Gln458delinsGlnPhePro;Ser460Pro]
CA199376
XM_011545569.1:c.1290del