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Canonical Allele Identifier: Get Identifier
Gene: CDKL5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000369332.3:p.[Phe447_Ser453delinsLeuTrpLysAlaLeuLysAla;Ala455Leu;Thr457_Gln459delinsHisCysSer;Asn461_Glu462delinsMet;Gln464del;His467_Tyr469delinsValGlyIleAla;Asp471Leu;Ile473_Gln475delinsGlnPhePro;Ser477Pro]
CA199376
ENST00000379996.7:c.1341del