Allele Registry

Canonical Allele Identifier: PA2828093828

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000055293

RCV000163902

RCV000189923

RCV000476957

RCV003153341

RCV003477459

ClinVar Variation:

65083

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Ala1257Val	CA019767 NM_001363528.2:c.3770C>T