Canonical Allele Identifier: PA2827019173
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2016405
ClinVar RCV Id: RCV002843884

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Gln1196His
CA394292399
NM_001318832.2:c.3588G>C
CA394292405
NM_001318832.2:c.3588G>T