Allele Registry

Canonical Allele Identifier: PA2825439361

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644156

RCV001023500

ClinVar Variation:

535926

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Glu1625Asp	CA394311952 NM_001077183.3:c.4875G>C CA394311954 NM_001077183.3:c.4875G>T