Canonical Allele Identifier: PA2825954629
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 64704
ClinVar RCV Id: RCV000054879 RCV000456358 RCV000782214 RCV002371892
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Val133Ile
CA007561
NM_001162426.2:c.397G>A