Allele Registry

Canonical Allele Identifier: PA2827004528

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644158

RCV002331189

RCV004004004

ClinVar Variation:

535928

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Thr1382Ile	CA051214 NM_001318827.2:c.4145C>T