Allele Registry

Canonical Allele Identifier: PA2828415679

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000234553

RCV000497390

RCV002347870

ClinVar Variation:

238083

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.His1729Arg	CA10583346 NM_001370404.1:c.5186A>G