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Canonical Allele Identifier: Get Identifier
Gene: TSC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001070651.1:p.[Glu1375Arg;Pro1377Ser;Pro1379_Ser1382delinsAlaPheGlnLeu;Arg1384_Arg1390delinsProLeuAlaGlnTrpProProAla;Gly1393_Ala1400delinsLeuHisHisLeuArgLeuGly;Ser1402_Arg1404delinsIleThrGln]
CA020272
NM_001077183.3:c.4122dup