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Canonical Allele Identifier: Get Identifier
Gene: CDKL5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000485184.1:p.[Ser593_Ser600delinsLeuMetAspTrpAlaThrProAla;Ser603_Arg607delinsLeu;His609_His611del;Met613_Tyr614delinsAsn;Thr616_Ala622delinsLeuIleGlyIleLeuCysMet]
CA16621279
ENST00000463994.4:c.1777del