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.Leu251Pro
CA394312705
ENST00000642206.2:c.752T>C
CA1139664329
ENST00000642206.2:c.752_753delinsCT