Allele Registry

Canonical Allele Identifier: PA2827016637

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000034663

RCV000054855

RCV000122242

RCV000130722

RCV000202756

RCV004534724

ClinVar Variation:

41746

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Gly1543Ser	CA022408 NM_001318831.2:c.4627G>A