Allele Registry

Canonical Allele Identifier: PA2827015492

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000565264

RCV001859982

RCV001915287

RCV002331423

ClinVar Variation:

486695

1398873

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Glu1246Asp	CA394302506 NM_001318831.2:c.3738G>C CA394302508 NM_001318831.2:c.3738G>T