Allele Registry

Canonical Allele Identifier: PA2828415588

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644101

RCV002334131

RCV003459535

RCV004003994

ClinVar Variation:

535883

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Gln1708Glu	CA394314782 NM_001370404.1:c.5122C>G