Canonical Allele Identifier: PA2825954557
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 466132
ClinVar RCV Id: RCV000530823 RCV001020060
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Leu1116Pro
CA036590
NM_001162426.2:c.3347T>C