Canonical Allele Identifier: PA2827019765
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468075
ClinVar RCV Id: RCV000554219 RCV001022193 RCV001532308
ClinVar Variation Id: 468076
ClinVar RCV Id: RCV000530101 RCV002330899 RCV003318590
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Gly1369Arg
CA050746
NM_001318832.2:c.4105G>A
CA394300730
NM_001318832.2:c.4105G>C