Canonical Allele Identifier: PA2827005959
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468014
ClinVar Variation Id: 1731365
ClinVar RCV Id: RCV002457023

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Glu65Asp
CA394306402
NM_001318829.2:c.195G>C
CA394306405
NM_001318829.2:c.195G>T