Allele Registry

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

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000494685.1:p.Glu700Asp	CA375361020 ENST00000643583.1:c.2100G>T CA375361021 ENST00000643583.1:c.2100G>C