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: TSC2 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000496262.1:p.Asp514Glu	CA394326376 ENST00000644043.1:c.1542C>G CA394326378 ENST00000644043.1:c.1542C>A