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Canonical Allele Identifier: Get Identifier
Gene: CDKL5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000369332.3:p.[Ser586_Ser591delinsHisLeuThrAsnLeu;Ser593_Ser600delinsLeuMetAspTrpAlaThrProAla;Ser603delinsLeuPro;Gln605_Ser612delinsAsnValLeuIleGlyIleLeuCys;Tyr614_Thr616del]
CA1139667245
ENST00000379996.7:c.1756_1759del