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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.[Leu361delinsThrPhe;Ser363_Pro364delinsAlaGln;Glu366_Ser369delinsLysProSerGln;Thr371_Pro385delinsGlnSerLeuIleLeuIleLeuThrGlnSerLeuGlnLysAlaGln;Thr387_Leu390delinsGlnSerThr]
CA16621277
XM_011545570.1:c.1079_1080dup