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Canonical Allele Identifier: Get Identifier
Gene: TSC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000495459.2:p.[Pro1380Ala;Ser1382_Ser1387delinsArgLeuArg;Glu1389_Leu1393delinsGlyHisSer;Asp1395_Pro1400delinsGlyProTrpThr;Asp1402del;Ala1404_Val1406delinsValLeuPro;Leu1409_Ser1410del;Glu1412_Val1413delinsArgAla;Ala1415_Gly1420del;Leu1422_Asp1423delinsVal;Glu1425_Ser1426del;Ala1428_Trp1429del;Ala1431_Gln1439del]
CA3265648709
ENST00000642365.2:c.4138_4228del