Canonical Allele Identifier: PA2828416375
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1744511
ClinVar RCV Id: RCV002342884 RCV003096547
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Gln166Arg
CA276771986
NM_001370405.1:c.497A>G