Canonical Allele Identifier: PA2825955616
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 380255
ClinVar RCV Id: RCV000576108 RCV000465751 RCV001079535 RCV002481304 RCV003996037
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Thr392Ile
CA16605642
NM_001162426.2:c.1175C>T