Canonical Allele Identifier: PA2828417727
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1408964
ClinVar RCV Id: RCV001909636

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Ser581Cys
CA394272745
NM_001370405.1:c.1741A>T