Allele Registry

Canonical Allele Identifier: PA2827013325

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042858

RCV000129683

RCV000227547

RCV001703935

ClinVar Variation:

49597

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Arg518Pro	CA016844 NM_001318831.2:c.1553G>C