Allele Registry

Canonical Allele Identifier: PA2828090128

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000547492

RCV000765259

RCV002341371

RCV003470759

ClinVar Variation:

468130

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Trp167Cys	CA053524 NM_001363528.2:c.501G>C CA394309159 NM_001363528.2:c.501G>T