Allele Registry

Canonical Allele Identifier: PA2827002124

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000163633

RCV000189993

RCV000230256

RCV002053949

RCV003995264

ClinVar Variation:

184386

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Arg654Cys	CA016553 NM_001318827.2:c.1960C>T