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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.[Gln368dup;Ser370Ala;Gln372_Pro373delinsLeu;Ser375_Ser377delinsLeuProAla;Asp379_Leu388delinsIleSerProThrThrThrTyrHisThrPhe;Ser390_Pro391delinsAlaGln;Glu393_Ser396delinsLysProSerGln;Thr398Gln]
CA2695231305
XM_011545569.1:c.1105del