Allele Registry

Canonical Allele Identifier: PA658681213

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000544382

RCV002330901

RCV003459242

RCV003999313

ClinVar Variation:

468080

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Glu1442Val	CA394301360 NM_000548.5:c.4325A>T