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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.[His564_Ser565delinsIleProIle;Ser567Cys;Ser569_Ser574delinsHisLeuThrAsnLeu;Ser576_Ser583delinsLeuMetAspTrpAlaThrProAla;Ser586_Arg593delinsLeuProSerAsnValLeuIleGly]
CA2740092031
XM_011545569.1:c.1690del