Allele Registry

Canonical Allele Identifier: PA2827019541

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000190029

RCV000644243

RCV001021792

RCV003996895

ClinVar Variation:

207752

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Gly1300Asp	CA050325 NM_001318832.2:c.3899G>A