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
ENSP00000494743.2:p.Asn716Lys	CA375360876 ENST00000642261.2:c.2148C>G CA375360878 ENST00000642261.2:c.2148C>A