Allele Registry

Canonical Allele Identifier: PA2825576375

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644231

RCV002331191

ClinVar Variation:

535982

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.Arg1394Trp	CA050704 NM_001114382.3:c.4180C>T