Allele Registry

Canonical Allele Identifier: PA2828091888

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000464533

RCV001014158

RCV001310309

RCV004000691

ClinVar Variation:

406003

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Arg680Gln	CA035970 NM_001363528.2:c.2039G>A