Allele Registry

Canonical Allele Identifier: PA2829980794

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644231

RCV002331191

ClinVar Variation:

535982

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Arg1374Trp	CA050704 NM_021055.3:c.4120C>T