Allele Registry

Canonical Allele Identifier: PA2828421949

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644386

RCV001024065

RCV001119439

RCV004533370

ClinVar Variation:

536087

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Glu1758Lys	CA055360 NM_001370405.1:c.5272G>A