Canonical Allele Identifier: PA2827004592
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49498
ClinVar RCV Id: RCV000042758 RCV002250506
ClinVar Variation Id: 1390361
ClinVar RCV Id: RCV001889529
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Gln1400His
CA020576
NM_001318827.2:c.4200G>T
CA394302743
NM_001318827.2:c.4200G>C