This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: TSC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000495459.2:p.[Glu1800_Phe1802delinsGlyGlyLeuHisArgValCysValArgProGlyProSerLeuLeuHisTrpProTrp;Thr1803_Glu1804insValLeuProValSer;Phe1805delinsIleAsnLys]
CA2837995381
ENST00000642365.2:c.5396dup