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Canonical Allele Identifier: Get Identifier
Gene: TSC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.[Arg1695His;Arg1697_Glu1701delinsAlaAlaProPro;Ala1703_Ser1708delinsAspLeuArgGlySerArg;Pro1710del;Val1712_Pro1714delinsGlnProGln;Ser1716_His1717delinsThr;Lys1719Gly;Ala1722_Gln1723delinsSerValPro]
CA2631118696
NM_001318832.2:c.5069_5081dup