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
ENSP00000344383.4:p.[Glu1419Arg;Pro1421Ser;Pro1423_Ser1426delinsAlaPheGlnLeu;Arg1428_Arg1434delinsProLeuAlaGlnTrpProProAla;Gly1437_Ala1444delinsLeuHisHisLeuArgLeuGly;Ser1446_Arg1448delinsIleThrGln]
CA020272
ENST00000350773.9:c.4254dup