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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.[Ser563_Pro571delinsThrValAlaIleProIleHisCysLeu;Glu573_Tyr581delinsLeuThrAsnLeuPheLeuMetAspTrpAla;Ser583delinsProAla;Ser586_His592delinsLeuProSerAsnValLeuIle]
CA2695231318
XM_011545569.1:c.1683_1687dup