Canonical Allele Identifier: PA2828060762
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 486590
ClinVar RCV Id: RCV000562317 RCV001859977
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Thr753Pro
CA375369840
NM_001362177.1:c.2257A>C