Canonical Allele Identifier: PA2828417433
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 467876
ClinVar RCV Id: RCV000559522
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Ser494Pro
CA394325846
NM_001370405.1:c.1480T>C