Allele Registry

Canonical Allele Identifier: PA2828091294

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000166788

RCV000536283

RCV003995532

ClinVar Variation:

187099

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Ile530Val	CA015168 NM_001363528.2:c.1588A>G