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Canonical Allele Identifier: Get Identifier
Gene: TSC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.[Glu1339Arg;Pro1341Ser;Pro1343_Ser1346delinsAlaPheGlnLeu;Arg1348_Arg1354delinsProLeuAlaGlnTrpProProAla;Gly1357_Ala1364delinsLeuHisHisLeuArgLeuGly;Ser1366_Arg1368delinsIleThrGln]
CA020272
NM_001318827.2:c.4014dup