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Canonical Allele Identifier: Get Identifier
Gene: CDKL5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011543871.1:p.[Ser569_Ser574delinsCysThrSerArgIlePhe;Ser576_Leu579delinsLeuTrpThr;Tyr581_Ser583delinsLeuHisGln;Phe585_Arg590delinsLeuPhePhe;His592_His594delinsAlaThrSer;Met596_Thr599del]
CA2695231320
XM_011545569.1:c.1706_1707del