Canonical Allele Identifier: PA2827001190
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 383175
ClinVar RCV Id: RCV000444336 RCV001221267 RCV002318425 RCV004000390
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.His398Tyr
CA029254
NM_001318827.2:c.1192C>T