Canonical Allele Identifier: PA2825439680
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 238083
ClinVar RCV Id: RCV000234553 RCV000497390 RCV002347870
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001070651.1:p.His1706Arg
CA10583346
NM_001077183.3:c.5117A>G