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Canonical Allele Identifier: Get Identifier
Gene: TSC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000496611.1:p.[Gly1332Arg;Asp1336delinsArgGly;Ala1338_Asp1339delinsCysCysLeu;Arg1342del;Ser1344_Ala1349delinsGlyArg;Ser1351del;Thr1355_Asp1357delinsProAlaArg;Glu1359del;Ala1361Leu;Trp1363_Gly1372delinsPhe;Pro1374_Pro1377del;Ser1380_Ser1382del]
CA3265648714
ENST00000644329.1:c.3994_4058del