Canonical Allele Identifier: PA2828419731
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_001357334.1:p.Ala1152Val
CA047499
NM_001370405.1:c.3455C>T