Canonical Allele Identifier: PA916023160
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 50015
ClinVar RCV Id: RCV000043283 RCV000537246 RCV003162359
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Arg996Cys
CA019506
NM_001318831.2:c.2986C>T