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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_Ser547delinsHisLeuThrAsnLeu;Ser549_Ser556delinsLeuMetAspTrpAlaThrProAla;Ser559delinsLeuPro;Gln561_Ser568delinsAsnValLeuIleGlyIleLeuCys;Tyr570_Thr572del]
CA1139667245
XM_011545570.1:c.1624_1627del