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Canonical Allele Identifier: Get Identifier
Gene: TSC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000495644.1:p.[Asp501_His520delinsAlaThrArgSerGluSerTrpProProSerCysTrpTrpThrTrpGlnArgAlaAla;His523_Ile530delinsThrThrSerThrAlaCysTrpThrSer]
CA891844063
ENST00000644135.1:c.1502del