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Canonical Allele Identifier: Get Identifier
Gene: CDKL5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011543872.1:p.[Ser549_Ser556delinsLeuMetAspTrpAlaThrProAla;Ser559_Arg563delinsLeu;His565_His567del;Met569_Tyr570delinsAsn;Thr572_Ala578delinsLeuIleGlyIleLeuCysMet]
CA16621279
XM_011545570.1:c.1645del