Canonical Allele Identifier: PA2827014628
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2075111
ClinVar RCV Id: RCV002963293

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Met992Ile
CA394292653
NM_001318831.2:c.2976G>A
CA394292655
NM_001318831.2:c.2976G>C
CA394292659
NM_001318831.2:c.2976G>T