Allele Registry

Canonical Allele Identifier: PA2825438360

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644231

RCV002331191

ClinVar Variation:

535982

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Arg1350Trp	CA050704 NM_001077183.3:c.4048C>T