Canonical Allele Identifier: PA2827012620
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207719
ClinVar RCV Id: RCV000189985 RCV001012413 RCV001088401
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Arg337His
CA031730
NM_001318831.2:c.1010G>A