Allele Registry

Canonical Allele Identifier: PA189241

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000055511

RCV000163808

RCV000189940

RCV000585252

RCV001081308

RCV004537246

ClinVar Variation:

65289

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Glu1679Lys	CA021570 NM_000548.5:c.5035G>A