Allele Registry

Canonical Allele Identifier: PA2827005292

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644156

RCV001023500

ClinVar Variation:

535926

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Glu1589Asp	CA394311952 NM_001318827.2:c.4767G>C CA394311954 NM_001318827.2:c.4767G>T