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.Tyr49_Lys346del	CA375375153 ENST00000643362.1:c.147C>G CA375375154 ENST00000643362.1:c.147C>A