Allele Registry

Canonical Allele Identifier: PA2828419174

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000468896

RCV000571036

RCV001698259

ClinVar Variation:

389789

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Val991Ile	CA044207 NM_001370405.1:c.2971G>A