Canonical Allele Identifier: PA2827015633
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49473
ClinVar RCV Id: RCV000042733 RCV000644318 RCV001022730 RCV001697067 RCV004537169
ClinVar Variation Id: 648504
ClinVar RCV Id: RCV000803252 RCV003166226
ClinVar Variation Id: 2705118
ClinVar RCV Id: RCV003512908
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Phe1283Leu
CA020719
NM_001318831.2:c.3847T>C
CA394304392
NM_001318831.2:c.3849T>A
CA394304402
NM_001318831.2:c.3849T>G