Allele Registry

Canonical Allele Identifier: PA2825437618

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000573474

RCV000644372

RCV001722537

RCV004001154

ClinVar Variation:

486630

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Arg1130Gln	CA047301 NM_001077183.3:c.3389G>A