Allele Registry

Canonical Allele Identifier: PA2828414333

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644231

RCV002331191

ClinVar Variation:

535982

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Arg1373Trp	CA050704 NM_001370404.1:c.4117C>T