Canonical Allele Identifier: PA2827008665
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 373567
ClinVar RCV Id: RCV000413038 RCV003512037
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Ser1060Arg
CA046905
NM_001318829.2:c.3178A>C
CA394288809
NM_001318829.2:c.3180T>A
CA394288819
NM_001318829.2:c.3180T>G