Allele Registry

Canonical Allele Identifier: PA916023991

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000013212

RCV000042875

RCV000221069

RCV000255572

RCV002482858

RCV004532330

ClinVar Variation:

12403

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Arg916Gln	CA017951 NM_001318832.2:c.2747G>A