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.Tyr48_Lys346del	CA375375161 ENST00000643362.1:c.144T>G CA375375162 ENST00000643362.1:c.144T>A