Allele Registry

Canonical Allele Identifier: PA2827014770

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644199

RCV002358833

RCV002493023

ClinVar Variation:

535957

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Gln1040Arg	CA276750917 NM_001318831.2:c.3119A>G