Canonical Allele Identifier: PA2827003866
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468046
ClinVar RCV Id: RCV001121242 RCV000546530 RCV002358537 RCV004541711 RCV001531843
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Ala1194Val
CA276752704
NM_001318827.2:c.3581C>T