Allele Registry

Canonical Allele Identifier: PA2825576621

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644158

RCV002331189

RCV004004004

ClinVar Variation:

535928

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.Thr1462Ile	CA051214 NM_001114382.3:c.4385C>T