Allele Registry

Canonical Allele Identifier: PA2827011849

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000462431

RCV002393093

ClinVar Variation:

406037

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Ile146Val	CA16615037 NM_001318831.2:c.436A>G