Canonical Allele Identifier: PA2827009506
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
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Ser1339Arg
CA394301651
NM_001318829.2:c.4015A>C
CA394301677
NM_001318829.2:c.4017T>A
CA394301688
NM_001318829.2:c.4017T>G