Canonical Allele Identifier: PA2827020240
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1476653
ClinVar RCV Id: RCV001998177
ClinVar Variation Id: 1697982
ClinVar RCV Id: RCV002269405

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Glu1496Gly
CA394305058
NM_001318832.2:c.4487A>G
CA2580091044
NM_001318832.2:c.4487_4488delinsGC