Allele Registry

Canonical Allele Identifier: PA2827014985

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000713931

RCV001087396

RCV002257482

RCV003996894

ClinVar Variation:

207750

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Glu1100Lys	CA050233 NM_001318831.2:c.3298G>A