Allele Registry

Canonical Allele Identifier: PA2828092199

Gene: TSC2 HGNC NCBI

ClinVar Allele:

530160

ClinVar RCV:

RCV000644214

RCV001087283

RCV002449027

RCV004004015

ClinVar Variation:

535969

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Val766Ala	CA038262 NM_001363528.2:c.2297T>C