Allele Registry

Canonical Allele Identifier: PA2829975368

Gene: TSC2 HGNC NCBI

ClinVar Allele:

184129

ClinVar RCV:

RCV000163633

RCV000189993

RCV000230256

RCV002053949

RCV003995264

ClinVar Variation:

184386

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Arg691Cys	CA016553 NM_021055.3:c.2071C>T