Allele Registry

Canonical Allele Identifier: PA2827010196

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000055511

RCV000163808

RCV000189940

RCV000585252

RCV001081308

RCV004537246

ClinVar Variation:

65289

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Glu1564Lys	CA021570 NM_001318829.2:c.4690G>A