Allele Registry

Canonical Allele Identifier: PA2828420269

Gene: TSC2 HGNC NCBI

ClinVar Allele:

426153

ClinVar RCV:

RCV000497895

RCV000702009

RCV001021794

RCV004003505

ClinVar Variation:

432576

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Gly1313Val	CA394299390 NM_001370405.1:c.3938G>T