Allele Registry

Canonical Allele Identifier: PA2827011475

Gene: TSC2 HGNC NCBI

ClinVar Allele:

242259

ClinVar RCV:

RCV000227059

RCV000277301

RCV002450674

RCV004532846

ClinVar Variation:

237994

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Val792Ile	CA10583310 NM_001318829.2:c.2374G>A