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
ENSP00000496398.2:p.Val998Leu	CA375366493 ENST00000643362.2:c.2992G>T CA375366494 ENST00000643362.2:c.2992G>C