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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.[Tyr598_Ser600delinsThrProAla;Ser603_Arg607delinsLeu;His609_His611del;Met613_Tyr614delinsAsn;Thr616_Gly624delinsLeuIleGlyIle;Asp626_Gly627delinsCysMet]
CA2695231325
ENST00000379996.7:c.1791del