Allele Registry

Canonical Allele Identifier: PA2827020692

Gene: TSC2 HGNC NCBI

ClinVar Allele:

76221

ClinVar RCV:

RCV000055511

RCV000163808

RCV000189940

RCV000585252

RCV001081308

RCV004537246

ClinVar Variation:

65289

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Glu1623Lys	CA021570 NM_001318832.2:c.4867G>A