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Canonical Allele Identifier: Get Identifier
Gene: CDKL5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011543872.1:p.[Ser538delinsProIle;Ser540Cys;Ser542_Ser547delinsHisLeuThrAsnLeu;Ser549_Ser556delinsLeuMetAspTrpAlaThrProAla;Ser559_His567delinsLeuProSerAsnValLeuIleGlyIle]
CA2825002898
XM_011545570.1:c.1612del