Canonical Allele Identifier: PA645433049
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 389789
ClinVar RCV Id: RCV000571036 RCV000468896 RCV001698259
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Val1034Ile
CA044207
NM_000548.5:c.3100G>A