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Canonical Allele Identifier: Get Identifier
Gene: TSC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.[Pro1338Ala;Ser1340_Ser1345delinsArgLeuArg;Glu1347_Leu1351delinsGlyHisSer;Asp1353_Pro1358delinsGlyProTrpThr;Asp1360del;Ala1362_Val1364delinsValLeuPro;Leu1367_Ser1368del;Glu1370_Val1371delinsArgAla;Ala1373_Gly1378del;Leu1380_Asp1381delinsVal;Glu1383_Ser1384del;Ala1386_Trp1387del;Ala1389_Gln1397del]
CA3265648709
NM_001370405.1:c.4012_4102del