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Canonical Allele Identifier: Get Identifier
Gene: CDKL5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000501174.1:p.[Glu742_Gly746delinsAlaValLeuGluPro;Asn748_Arg752delinsThrGlnLysAspAsn;Pro754_His767delinsHisSerIleHisGlyLysValLeuLysIleLeuValIleGln;Glu769_Lys772delinsAsnSerArg]
CA2695231352
ENST00000674046.1:c.2225_2228del