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
ENSP00000494916.1:p.Leu129Phe	CA375369697 ENST00000643691.1:c.387A>T CA375369699 ENST00000643691.1:c.387A>C