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Canonical Allele Identifier: Get Identifier
Gene: TSC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000494514.1:p.[Pro1337Ala;Ser1339_Ser1344delinsArgLeuArg;Glu1346_Leu1350delinsGlyHisSer;Asp1352_Pro1357delinsGlyProTrpThr;Asp1359del;Ala1361_Val1363delinsValLeuPro;Leu1366_Ser1367del;Glu1369_Val1370delinsArgAla;Ala1372_Gly1377del;Leu1379_Asp1380delinsVal;Glu1382_Ser1383del;Ala1385_Trp1386del;Ala1388_Gln1396del]
CA3265648709
ENST00000642936.1:c.4009_4099del