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Canonical Allele Identifier: Get Identifier
Gene: TSC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.[Glu1198Arg;Pro1200Ser;Pro1202_Ser1205delinsAlaPheGlnLeu;Arg1207_Arg1213delinsProLeuAlaGlnTrpProProAla;Gly1216_Ala1223delinsLeuHisHisLeuArgLeuGly;Ser1225_Arg1227delinsIleThrGln]
CA020272
NM_001318831.2:c.3591dup