Allele Registry

Canonical Allele Identifier: PA2827012620

Gene: TSC2 HGNC NCBI

ClinVar Allele:

203121

ClinVar RCV:

RCV000189985

RCV001012413

RCV001088401

ClinVar Variation:

207719

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Arg337His	CA031730 NM_001318831.2:c.1010G>A