Canonical Allele Identifier: PA2827005536
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406048
ClinVar RCV Id: RCV001023801 RCV000497304 RCV001087863 RCV004000709 RCV004533164
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Arg1648Cys
CA054573
NM_001318827.2:c.4942C>T