Allele Registry

Canonical Allele Identifier: PA2828416441

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000227485

RCV001024387

ClinVar Variation:

238088

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Cys189Tyr	CA055403 NM_001370405.1:c.566G>A