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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_Gly551del;Gly553_Tyr554delinsTrp;Ser556_Ser560delinsGlyLeuHis;Gln562_Arg563del;His565_Val571delinsLeuPhePheProAla;Arg573_Ala578delinsSerSer]
CA16621278
XM_011545570.1:c.1644_1645del