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Canonical Allele Identifier: Get Identifier
Gene: TSC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.[Glu1327Arg;Pro1329Ser;Pro1331_Ser1334delinsAlaPheGlnLeu;Arg1336_Arg1342delinsProLeuAlaGlnTrpProProAla;Gly1345_Ala1352delinsLeuHisHisLeuArgLeuGly;Ser1354_Arg1356delinsIleThrGln]
CA020272
NM_001318829.2:c.3978dup