Canonical Allele Identifier: PA645433423
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406069
ClinVar RCV Id: RCV000570432 RCV000461845 RCV001662421 RCV004000712
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Ala1195Val
CA047499
NM_000548.5:c.3584C>T