Allele Registry

Canonical Allele Identifier: PA2827001747

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043430

RCV000473316

ClinVar Variation:

50162

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Tyr561Cys	CA015795 NM_001318827.2:c.1682A>G