Allele Registry

Canonical Allele Identifier: PA2829983901

Gene: TSC2 HGNC NCBI

ClinVar Allele:

242341

ClinVar RCV:

RCV000234553

RCV000497390

RCV002347870

ClinVar Variation:

238083

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.His1730Arg	CA10583346 NM_021055.3:c.5189A>G