Canonical Allele Identifier: PA2828415057
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 847781
ClinVar RCV Id: RCV001051397 RCV002339257 RCV003467763
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Ala1573Thr
CA394308162
NM_001370404.1:c.4717G>A