Canonical Allele Identifier: PA2828094775
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 50096
ClinVar RCV Id: RCV000043362 RCV002326765 RCV002514176
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Leu1518Arg
CA020979
NM_001363528.2:c.4553T>G