Allele Registry

Canonical Allele Identifier: PA658805041

Gene: TSC2 HGNC NCBI

ClinVar Allele:

529938

ClinVar RCV:

RCV000644069

RCV002424462

RCV004003985

ClinVar Variation:

535858

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Val892Ile	CA276741706 NM_000548.5:c.2674G>A