Allele Registry

Canonical Allele Identifier: PA2827000930

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000034641

RCV000055595

RCV000122202

RCV000163628

RCV000230505

RCV000714826

ClinVar Variation:

41724

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Ala320Val	CA013675 NM_001318827.2:c.959C>T