Canonical Allele Identifier: PA2828094521
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 387484
ClinVar RCV Id: RCV001088704 RCV000442144 RCV002328973
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Pro1451Thr
CA16606959
NM_001363528.2:c.4351C>A