Allele Registry

Canonical Allele Identifier: PA2828091183

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000478401

RCV000691424

RCV003343855

RCV003470587

ClinVar Variation:

423778

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Ser494Phe	CA030798 NM_001363528.2:c.1481C>T