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
ENSP00000496317.1:p.Val333Leu
CA394317317
ENST00000644335.1:c.997G>C
CA394317320
ENST00000644335.1:c.997G>T