Canonical Allele Identifier: PA2829979592
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2075111
ClinVar RCV Id: RCV002963293

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066399.2:p.Met1193Ile
CA394292653
NM_021055.3:c.3579G>A
CA394292655
NM_021055.3:c.3579G>C
CA394292659
NM_021055.3:c.3579G>T