Canonical Allele Identifier: PA2827019871
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535857
ClinVar RCV Id: RCV000644067 RCV002256435 RCV003153783
ClinVar Variation Id: 1057663
ClinVar RCV Id: RCV001366691 RCV003155402
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Ser1398Arg
CA394301651
NM_001318832.2:c.4192A>C
CA394301677
NM_001318832.2:c.4194T>A
CA394301688
NM_001318832.2:c.4194T>G