Allele Registry

Canonical Allele Identifier: PA2825577723

Gene: TSC2 HGNC NCBI

ClinVar Allele:

242341

ClinVar RCV:

RCV000234553

RCV000497390

RCV002347870

ClinVar Variation:

238083

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.His1750Arg	CA10583346 NM_001114382.3:c.5249A>G