Allele Registry

Canonical Allele Identifier: PA2825435858

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043430

RCV000473316

ClinVar Variation:

50162

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Tyr598Cys	CA015795 NM_001077183.3:c.1793A>G