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: TSC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000495598.2:p.Asp273Glu
CA039098
ENST00000643275.2:c.819T>G
CA375369393
ENST00000643275.2:c.819T>A