Allele Registry

Canonical Allele Identifier: PA2827015758

Gene: TSC2 HGNC NCBI

ClinVar Allele:

529769

ClinVar RCV:

RCV000644117

RCV001022882

RCV001766382

RCV003153784

RCV004003996

ClinVar Variation:

535895

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Ala1316Thr	CA052272 NM_001318831.2:c.3946G>A