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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.[Ser542_Ser547delinsCysThrSerArgIlePhe;Ser549_Leu552delinsLeuTrpThr;Tyr554_Ser556delinsLeuHisGln;Phe558_Arg563delinsLeuPhePhe;His565_His567delinsAlaThrSer;Met569_Thr572del]
CA2695231320
XM_011545570.1:c.1625_1626del