Canonical Allele Identifier: PA2827004122
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 230453
ClinVar RCV Id: RCV000219391 RCV000296255 RCV000473048
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Glu1263Ala
CA050437
NM_001318827.2:c.3788A>C