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
XP_011520940.1:p.Val647Leu	CA394274596 XM_011522638.1:c.1939G>C CA394274597 XM_011522638.1:c.1939G>T CA658658370 XM_011522638.1:c.1938_1939delinsTC