Canonical Allele Identifier: PA916023342
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468198
ClinVar RCV Id: RCV000531279 RCV002384166 RCV002483449 RCV003999347 RCV002473056
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Val344Leu
CA394317317
NM_001318832.2:c.1030G>C
CA394317320
NM_001318832.2:c.1030G>T