Canonical Allele Identifier: PA916043302
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_001349106.1:p.Leu996Pro
CA036590
NM_001362177.1:c.2987T>C