Canonical Allele Identifier: PA2827020456
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 981444
ClinVar Variation Id: 1743528
ClinVar RCV Id: RCV002340251

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Met1559Ile
CA394308152
NM_001318832.2:c.4677G>A
CA394308153
NM_001318832.2:c.4677G>C
CA394308154
NM_001318832.2:c.4677G>T