Allele Registry

Canonical Allele Identifier: PA2827009012

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000546530

RCV001121242

RCV001531843

RCV002358537

RCV004541711

ClinVar Variation:

468046

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Ala1182Val	CA276752704 NM_001318829.2:c.3545C>T