Allele Registry

Canonical Allele Identifier: PA2827000568

Gene: TSC2 HGNC NCBI

ClinVar Allele:

400650

ClinVar RCV:

RCV000472885

RCV000565481

RCV001584139

RCV004000689

ClinVar Variation:

405992

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Arg208Cys	CA056249 NM_001318827.2:c.622C>T