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
ENSP00000495598.2:p.Leu250Phe	CA375369697 ENST00000643275.2:c.750A>T CA375369699 ENST00000643275.2:c.750A>C