Allele Registry

Canonical Allele Identifier: PA2825438185

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000713932

RCV001086293

RCV002257693

ClinVar Variation:

405949

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Val1296Ile	CA050403 NM_001077183.3:c.3886G>A