Canonical Allele Identifier: PA2828413163
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207742
ClinVar Variation Id: 3232136
ClinVar RCV Id: RCV004520819

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Gly1032Arg
CA044834
NM_001370404.1:c.3094G>A
CA394285992
NM_001370404.1:c.3094G>C