Allele Registry

Canonical Allele Identifier: PA2825437940

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000546530

RCV001121242

RCV001531843

RCV002358537

RCV004541711

ClinVar Variation:

468046

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Ala1230Val	CA276752704 NM_001077183.3:c.3689C>T