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Canonical Allele Identifier: Get Identifier
Gene: CDKL5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.[Ser586_Ser591delinsCysThrSerArgIlePhe;Ser593_Leu596delinsLeuTrpThr;Tyr598_Ser600delinsLeuHisGln;Phe602_Arg607delinsLeuPhePhe;His609_His611delinsAlaThrSer;Met613_Thr616del]
CA2695231320
NM_001323289.2:c.1757_1758del