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)	Transcript change
ENSP00000444017.1:p.Arg194Ter	ENST00000545250.5:c.[579del;581G>T] ENST00000545250.5:c.[579del;581G>T;583A>G... ENST00000545250.5:c.580C>T