Canonical Allele Identifier: PA2828060384
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 466064
ClinVar RCV Id: RCV000595767 RCV001079196 RCV002420444
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Tyr583Cys
CA031442
NM_001362177.1:c.1748A>G