Canonical Allele Identifier: PA2827013919
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207734
ClinVar RCV Id: RCV000190005 RCV000644168 RCV002426918
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Ile693Thr
CA319484
NM_001318831.2:c.2078T>C