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Canonical Allele Identifier: Get Identifier
Gene: TSC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001107854.1:p.[Glu1419Arg;Pro1421Ser;Pro1423_Ser1426delinsAlaPheGlnLeu;Arg1428_Arg1434delinsProLeuAlaGlnTrpProProAla;Gly1437_Ala1444delinsLeuHisHisLeuArgLeuGly;Ser1446_Arg1448delinsIleThrGln]
CA020272
NM_001114382.3:c.4254dup