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Canonical Allele Identifier: Get Identifier
Gene: TSC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000493846.1:p.[Pro1315Ala;Ser1317_Ser1322delinsArgLeuArg;Glu1324_Leu1328delinsGlyHisSer;Asp1330_Pro1335delinsGlyProTrpThr;Asp1337del;Ala1339_Val1341delinsValLeuPro;Leu1344_Ser1345del;Glu1347_Val1348delinsArgAla;Ala1350_Gly1355del;Leu1357_Asp1358delinsVal;Glu1360_Ser1361del;Ala1363_Trp1364del;Ala1366_Gln1374del]
CA3265648709
ENST00000642797.1:c.3943_4033del