Allele Registry

Canonical Allele Identifier: PA2827005536

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000497304

RCV001023801

RCV001087863

RCV004000709

RCV004533164

ClinVar Variation:

406048

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Arg1648Cys	CA054573 NM_001318827.2:c.4942C>T