Allele Registry

Canonical Allele Identifier: PA916023780

Gene: TSC2 HGNC NCBI

ClinVar Allele:

184129

ClinVar RCV:

RCV000163633

RCV000189993

RCV000230256

RCV002053949

RCV003995264

ClinVar Variation:

184386

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Arg702Cys	CA016553 NM_001318832.2:c.2104C>T