Canonical Allele Identifier: PA2573170413
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_000539.2:p.Glu1552Gly
CA394305058
NM_000548.5:c.4655A>G
CA2580091044
NM_000548.5:c.4655_4656delinsGC