Allele Registry

Canonical Allele Identifier: PA2827013743

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000227059

RCV000277301

RCV002450674

RCV004532846

ClinVar Variation:

237994

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Val641Ile	CA10583310 NM_001318831.2:c.1921G>A