Canonical Allele Identifier: PA319486
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207734
ClinVar RCV Id: RCV000190005 RCV000644168 RCV002426918
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Ile893Thr
CA319484
NM_000548.5:c.2678T>C