Canonical Allele Identifier: PA2825956404
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 365517
ClinVar RCV Id: RCV000267953 RCV000360120 RCV000546659 RCV002402089 RCV001810867
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Thr581Ile
CA10629362
NM_001162426.2:c.1742C>T