Allele Registry

Canonical Allele Identifier: PA916023101

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000573474

RCV000644372

RCV001722537

RCV004001154

ClinVar Variation:

486630

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Arg930Gln	CA047301 NM_001318831.2:c.2789G>A