Allele Registry

Canonical Allele Identifier: PA2827008909

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043283

RCV000537246

RCV003162359

ClinVar Variation:

50015

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Arg1148Cys	CA019506 NM_001318829.2:c.3442C>T