Allele Registry

Canonical Allele Identifier: PA2828092442

Gene: TSC2 HGNC NCBI

ClinVar Allele:

242259

ClinVar RCV:

RCV000227059

RCV000277301

RCV002450674

RCV004532846

ClinVar Variation:

237994

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Val841Ile	CA10583310 NM_001363528.2:c.2521G>A