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
ENSP00000496398.1:p.Leu182_Lys346del	CA375371373 ENST00000643362.1:c.545T>G CA375371376 ENST00000643362.1:c.545T>A