Canonical Allele Identifier: PA2828090381
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 318307
ClinVar RCV Id: RCV000465522 RCV002379195 RCV000405414 RCV000433208
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Ile247Val
CA056277
NM_001363528.2:c.739A>G