Allele Registry

Canonical Allele Identifier: PA2827012593

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000166788

RCV000536283

RCV003995532

ClinVar Variation:

187099

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Ile330Val	CA015168 NM_001318831.2:c.988A>G