Allele Registry

Canonical Allele Identifier: PA2828420052

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000546530

RCV001121242

RCV001531843

RCV002358537

RCV004541711

ClinVar Variation:

468046

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Ala1254Val	CA276752704 NM_001370405.1:c.3761C>T