Allele Registry

Canonical Allele Identifier: PA2825577626

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000497304

RCV001023801

RCV001087863

RCV004000709

RCV004533164

ClinVar Variation:

406048

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.Arg1728Cys	CA054573 NM_001114382.3:c.5182C>T