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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.[Ser485_Glu493delinsThrGly;Ser495_Ser497delinsLysLeu;Tyr499_Phe500delinsSer;Ser502_Pro510delinsValProValGly;Pro513_Arg517delinsHisLeuAlaAla]
CA2695231327
XM_011545569.1:c.1453_1462delinsACT