Allele Registry

Canonical Allele Identifier: PA2828417623

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000572824

RCV000804218

RCV001509505

ClinVar Variation:

486688

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Ala552Thr	CA394268001 NM_001370405.1:c.1654G>A