Allele Registry

Canonical Allele Identifier: PA645431981

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000470761

RCV001011130

RCV001591076

RCV004000707

ClinVar Variation:

406041

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Arg454Ser	CA029692 NM_000548.5:c.1362G>C CA394323549 NM_000548.5:c.1362G>T