Allele Registry

Canonical Allele Identifier: PA2827006288

Gene: TSC2 HGNC NCBI

ClinVar Allele:

400650

ClinVar RCV:

RCV000472885

RCV000565481

RCV001584139

RCV004000689

ClinVar Variation:

405992

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Arg196Cys	CA056249 NM_001318829.2:c.586C>T