Allele Registry

Canonical Allele Identifier: PA916023561

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000189985

RCV001012413

RCV001088401

ClinVar Variation:

207719

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Arg548His	CA031730 NM_001318832.2:c.1643G>A