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
ENSP00000493963.1:p.Gln343His
CA375368385
ENST00000642745.1:c.1029A>C
CA375368388
ENST00000642745.1:c.1029A>T