Allele Registry

Canonical Allele Identifier: PA2827004369

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000544382

RCV002330901

RCV003459242

RCV003999313

ClinVar Variation:

468080

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Glu1339Val	CA394301360 NM_001318827.2:c.4016A>T