Allele Registry

Canonical Allele Identifier: PA2825439822

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644386

RCV001024065

RCV001119439

RCV004533370

ClinVar Variation:

536087

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Glu1738Lys	CA055360 NM_001077183.3:c.5212G>A