Canonical Allele Identifier: PA2827012092
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3074520
ClinVar RCV Id: RCV004014054

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Trp1116Cys
CA394291543
NM_001318829.2:c.3348G>C
CA394291545
NM_001318829.2:c.3348G>T