Allele Registry

Canonical Allele Identifier: PA2827001688

Gene: TSC2 HGNC NCBI

ClinVar Allele:

401455

ClinVar RCV:

RCV000469836

RCV001013015

RCV002274032

RCV004000695

ClinVar Variation:

406014

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Arg548Cys	CA033336 NM_001318827.2:c.1642C>T