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Canonical Allele Identifier: Get Identifier
Gene: CDKL5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000485184.1:p.[His581_Ser582delinsIleProIle;Ser584Cys;Ser586_Ser591delinsHisLeuThrAsnLeu;Ser593_Ser600delinsLeuMetAspTrpAlaThrProAla;Ser603_Arg610delinsLeuProSerAsnValLeuIleGly]
CA2740092031
ENST00000463994.4:c.1741del