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Canonical Allele Identifier: Get Identifier
Gene: CDKL5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000485244.1:p.[Thr533_Asp537delinsAsnThrVal;Thr540Glu;Leu542Cys;Pro544_Arg563delinsAlaLeuLeuGluGluIleThrGluMetArgGluArgTrpThrHisValGluProGlnProAsp]
CA2819902203
ENST00000623535.2:c.1598_1601del