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Canonical Allele Identifier: Get Identifier
Gene: TSC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000384468.2:p.[Pro1314Ala;Ser1316_Ser1321delinsArgLeuArg;Glu1323_Leu1327delinsGlyHisSer;Asp1329_Pro1334delinsGlyProTrpThr;Asp1336del;Ala1338_Val1340delinsValLeuPro;Leu1343_Ser1344del;Glu1346_Val1347delinsArgAla;Ala1349_Gly1354del;Leu1356_Asp1357delinsVal;Glu1359_Ser1360del;Ala1362_Trp1363del;Ala1365_Gln1373del]
CA3265648709
ENST00000401874.7:c.3940_4030del