Allele Registry

Canonical Allele Identifier: PA2827001874

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000444052

RCV000546851

RCV000767144

RCV002411311

ClinVar Variation:

379559

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Gly593Asp	CA16606929 NM_001318827.2:c.1778G>A