Canonical Allele Identifier: PA2827005002
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1057471
ClinVar RCV Id: RCV001366460
ClinVar Variation Id: 1360336
ClinVar RCV Id: RCV001904839
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Gln1513His
CA394308160
NM_001318827.2:c.4539A>C
CA394308161
NM_001318827.2:c.4539A>T