Canonical Allele Identifier: PA2825577096
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1057471
ClinVar RCV Id: RCV001366460
ClinVar Variation Id: 1360336
ClinVar RCV Id: RCV001904839

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001107854.1:p.Gln1593His
CA394308160
NM_001114382.3:c.4779A>C
CA394308161
NM_001114382.3:c.4779A>T