This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: TSC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000495146.2:p.Thr1040Ser
CA394285762
ENST00000642206.2:c.3118A>T
CA394285772
ENST00000642206.2:c.3119C>G