Allele Registry

Canonical Allele Identifier: PA2825438118

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000713931

RCV001087396

RCV002257482

RCV003996894

ClinVar Variation:

207750

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Glu1277Lys	CA050233 NM_001077183.3:c.3829G>A