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Canonical Allele Identifier: Get Identifier
Gene: TSC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000371978.6:p.[Val1416_Asp1426delinsCysSerSerSerThrArgSerHisHisThrThrPro;His1428_Asn1441delinsArgSerProSerCysMetLeuGluLysAlaArgAlaThrAla;Glu1443_Ala1445delinsSerPro]
CA020732
ENST00000382538.10:c.4246del