Allele Registry

Canonical Allele Identifier: PA2828419041

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000189913

RCV000807950

RCV001017697

ClinVar Variation:

207675

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Arg947Gly	CA043555 NM_001370405.1:c.2839A>G