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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.[Ser565delinsProIle;Ser567Cys;Ser569_Ser574delinsHisLeuThrAsnLeu;Ser576_Ser583delinsLeuMetAspTrpAlaThrProAla;Ser586_His594delinsLeuProSerAsnValLeuIleGlyIle]
CA2825002898
XM_011545569.1:c.1693del