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Canonical Allele Identifier: Get Identifier
Gene: TSC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000454487.1:p.[Val1475_Asp1485delinsCysSerSerSerThrArgSerHisHisThrThrPro;His1487_Asn1500delinsArgSerProSerCysMetLeuGluLysAlaArgAlaThrAla;Glu1502_Ala1504delinsSerPro]
CA020732
ENST00000568454.6:c.4423del