Canonical Allele Identifier: PA2828414867
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 50052
ClinVar RCV Id: RCV000043318 RCV000713940 RCV000989438 RCV002336165
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Leu1518Pro
CA020902
NM_001370404.1:c.4553T>C