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
ENSP00000494916.2:p.His316Gln	CA375366121 ENST00000643691.2:c.948T>G CA375366122 ENST00000643691.2:c.948T>A