Allele Registry

Canonical Allele Identifier: PA2827013323

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000518165

ClinVar Variation:

448724

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Leu517Gln	CA394274849 NM_001318831.2:c.1550T>A