Allele Registry

Canonical Allele Identifier: PA2828417175

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000430283

RCV001861619

ClinVar Variation:

389695

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Cys414Gly	CA16608029 NM_001370405.1:c.1240T>G