Allele Registry

Canonical Allele Identifier: PA2827016376

Gene: TSC2 HGNC NCBI

ClinVar Allele:

529736

ClinVar RCV:

RCV000644161

RCV002334132

ClinVar Variation:

535931

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.His1482Tyr	CA054330 NM_001318831.2:c.4444C>T