Allele Registry

Canonical Allele Identifier: PA2825437580

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043356

RCV000228930

RCV000567364

RCV001699111

RCV001727553

RCV004537179

ClinVar Variation:

50090

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Ala1120Val	CA019211 NM_001077183.3:c.3359C>T