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Alterlab Clinvar

AlterLab Creative Technologies Laboratory

Query NCBI ClinVar via the E-utilities API or FTP for the clinical significance (pathogenicity) of human germline genetic variants, searching by gene, variant, condition, or genomic position and interpreting ACMG/AMP classifications and review-status star ratings.

安装

npx skills add AlterLab-IEU/AlterLab-Academic-Skills --skill alterlab-clinvar