Allele Registry

Canonical Allele Identifier: PA2829983744

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000840146

RCV001202480

RCV002336738

ClinVar Variation:

680371

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Glu1713Asp	CA054895 NM_021055.3:c.5139G>C CA394315083 NM_021055.3:c.5139G>T