Allele Registry

Canonical Allele Identifier: PA2828419867

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043283

RCV000537246

RCV003162359

ClinVar Variation:

50015

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Arg1197Cys	CA019506 NM_001370405.1:c.3589C>T