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
ENSP00000384468.2:p.Val1243Leu
CA394297222
ENST00000401874.7:c.3727G>C
CA394297228
ENST00000401874.7:c.3727G>T