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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_Ser574delinsHisLeuThrAsnLeu;Ser576_Ser583delinsLeuMetAspTrpAlaThrProAla;Ser586delinsLeuPro;Gln588_Ser595delinsAsnValLeuIleGlyIleLeuCys;Tyr597_Thr599del]
CA1139667245
XM_011545569.1:c.1705_1708del