Allele Registry

Canonical Allele Identifier: PA2828413522

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000573474

RCV000644372

RCV001722537

RCV004001154

ClinVar Variation:

486630

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Arg1130Gln	CA047301 NM_001370404.1:c.3389G>A