Canonical Allele Identifier: PA658805083
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_000539.2:p.Ser1454Arg
CA394301651
NM_000548.5:c.4360A>C
CA394301677
NM_000548.5:c.4362T>A
CA394301688
NM_000548.5:c.4362T>G