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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.[Pro702_Ser721delinsValHisLeuHisValGlnThrIleLeuSerMetLysIleMetCysGlnLeuGluPheLeu;Pro723_Asn731delinsTyrHisGlnArgAlaValLeuGluPro]
CA2695231349
XM_011545569.1:c.2103_2104insGT