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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.[Pro386_Leu388delinsHisThrPhe;Ser390_Pro391delinsAlaGln;Glu393_Ser396delinsLysProSerGln;Thr398_Pro412delinsGlnSerLeuIleLeuIleLeuThrGlnSerLeuGlnLysAlaGln;Thr414_Lys415delinsGlnSer]
CA2580100406
XM_011545569.1:c.1157del