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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_Gly595del;Gly597_Tyr598delinsTrp;Ser600_Ser604delinsGlyLeuHis;Gln606_Arg607del;His609_Val615delinsLeuPhePheProAla;Arg617_Ala622delinsSerSer]
CA16621278
ENST00000463994.4:c.1776_1777del