Allele Registry

Canonical Allele Identifier: PA2827015430

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000462201

RCV004000704

ClinVar Variation:

406035

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Arg1230Gly	CA051088 NM_001318831.2:c.3688A>G