Allele Registry

Canonical Allele Identifier: PA658681060

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000573474

RCV000644372

RCV001722537

RCV004001154

ClinVar Variation:

486630

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Arg1174Gln	CA047301 NM_000548.5:c.3521G>A