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Canonical Allele Identifier: Get Identifier
Gene: CDKL5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000501174.1:p.[Leu596Thr;Tyr598_Ser600delinsLeuHisGln;Phe602_Arg607delinsLeuPhePhe;His609_His611delinsAlaThrSer;Met613_Gly624del]
CA199383
ENST00000674046.1:c.1784dup