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Canonical Allele Identifier: Get Identifier
Gene: TSC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066399.2:p.[Glu1399Arg;Pro1401Ser;Pro1403_Ser1406delinsAlaPheGlnLeu;Arg1408_Arg1414delinsProLeuAlaGlnTrpProProAla;Gly1417_Ala1424delinsLeuHisHisLeuArgLeuGly;Ser1426_Arg1428delinsIleThrGln]
CA020272
NM_021055.3:c.4194dup