Allele Registry

Canonical Allele Identifier: PA2827019743

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644231

RCV002331191

ClinVar Variation:

535982

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Arg1361Trp	CA050704 NM_001318832.2:c.4081C>T