Allele Registry

Canonical Allele Identifier: PA916023160

Gene: TSC2 HGNC NCBI

ClinVar Allele:

59177

ClinVar RCV:

RCV000043283

RCV000537246

RCV003162359

ClinVar Variation:

50015

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Arg996Cys	CA019506 NM_001318831.2:c.2986C>T