Canonical Allele Identifier: PA2825573793
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49175
ClinVar RCV Id: RCV000042431 RCV001852875
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001107854.1:p.Tyr598His
CA015786
NM_001114382.3:c.1792T>C