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
NP_001305761.1:p.[Glu1386Arg;Pro1388Ser;Pro1390_Ser1393delinsAlaPheGlnLeu;Arg1395_Arg1401delinsProLeuAlaGlnTrpProProAla;Gly1404_Ala1411delinsLeuHisHisLeuArgLeuGly;Ser1413_Arg1415delinsIleThrGln]
CA020272
NM_001318832.2:c.4155dup