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.Phe1049Leu
CA394285265
ENST00000642365.2:c.3145T>C
CA394285286
ENST00000642365.2:c.3147C>A
CA394285291
ENST00000642365.2:c.3147C>G