Allele Registry

Canonical Allele Identifier: PA916023380

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644146

RCV002282288

RCV002424465

RCV002483858

RCV004004001

ClinVar Variation:

535916

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Glu377Gln	CA276776700 NM_001318832.2:c.1129G>C