Canonical Allele Identifier: PA2828421188
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_001357334.1:p.Gln1573His
CA394308160
NM_001370405.1:c.4719A>C
CA394308161
NM_001370405.1:c.4719A>T