Canonical Allele Identifier: PA2827020793
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49456
ClinVar RCV Id: RCV000042716 RCV000233434 RCV000576072 RCV001079298 RCV004537167 RCV003153329
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Arg1650His
CA021767
NM_001318832.2:c.4949G>A