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
ENSP00000495459.2:p.Leu750Phe
CA037765
ENST00000642365.2:c.2248C>T
CA916081771
ENST00000642365.2:c.2247_2248delinsAT