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Canonical Allele Identifier: Get Identifier
Gene: CDKL5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000485244.1:p.[Pro719_Ser738delinsValHisLeuHisValGlnThrIleLeuSerMetLysIleMetCysGlnLeuGluPheLeu;Pro740_Asn748delinsTyrHisGlnArgAlaValLeuGluPro]
CA2695231349
ENST00000623535.2:c.2154_2155insGT