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Canonical Allele Identifier: Get Identifier
Gene: TSC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000494514.1:p.[Ser1694_Asn1718delinsLeuGlnValAspCysProAlaProProHisGlnAlaAlaProProAlaAspLeuArgGlySerArgLeuLeuGln;Ser1720_Leu1723delinsGlnProThrSer]
CA2573151980
ENST00000642936.1:c.5079dup