Allele Registry

Canonical Allele Identifier: PA2827013913

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644069

RCV002424462

RCV004003985

ClinVar Variation:

535858

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Val692Ile	CA276741706 NM_001318831.2:c.2074G>A