Allele Registry

Canonical Allele Identifier: PA2828420783

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000546695

ClinVar Variation:

468092

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Gln1460Arg	CA394302741 NM_001370405.1:c.4379A>G