Allele Registry

Canonical Allele Identifier: PA2827006526

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000559621

RCV002384165

ClinVar Variation:

468197

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Glu283Lys	CA276776600 NM_001318829.2:c.847G>A