Allele Registry

Canonical Allele Identifier: PA645433423

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000461845

RCV000570432

RCV001662421

RCV004000712

ClinVar Variation:

406069

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Ala1195Val	CA047499 NM_000548.5:c.3584C>T