Canonical Allele Identifier: PA2825576503
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_001107854.1:p.Ser1431Arg
CA394301651
NM_001114382.3:c.4291A>C
CA394301677
NM_001114382.3:c.4293T>A
CA394301688
NM_001114382.3:c.4293T>G