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Canonical Allele Identifier: Get Identifier
Gene: TSC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.[Glu1442Arg;Pro1444Ser;Pro1446_Ser1449delinsAlaPheGlnLeu;Arg1451_Arg1457delinsProLeuAlaGlnTrpProProAla;Gly1460_Ala1467delinsLeuHisHisLeuArgLeuGly;Ser1469_Arg1471delinsIleThrGln]
CA020272
NM_000548.5:c.4323dup