Allele Registry

Canonical Allele Identifier: PA2828421000

Gene: TSC2 HGNC NCBI

ClinVar Allele:

529769

ClinVar RCV:

RCV000644117

RCV001022882

RCV001766382

RCV003153784

RCV004003996

ClinVar Variation:

535895

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Ala1517Thr	CA052272 NM_001370405.1:c.4549G>A