Allele Registry

Canonical Allele Identifier: PA2827009671

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000546695

ClinVar Variation:

468092

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Gln1388Arg	CA394302741 NM_001318829.2:c.4163A>G