Allele Registry

Canonical Allele Identifier: PA2828091949

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043373

RCV000490930

RCV001240824

ClinVar Variation:

50106

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Cys696Tyr	CA016643 NM_001363528.2:c.2087G>A