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
XP_011520938.1:p.[Ala1800_Glu1801delinsProSer;Thr1803_Val1808delinsHisLeuAlaMetArgTrpAlaSer;Gln1810_Lys1812delinsSerAlaSerSerPro;Leu1814_Ser1816delinsTrpArgThr;Val1818_Val1825delinsProSerLeuCysGluAlaGlyAla]
CA620705135
XM_011522636.2:c.5398del