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clinvar-database

Query NCBI ClinVar for variant clinical significance. Search by gene/position, interpret pathogenicity classifications, access via E-utilities API or FTP, annotate VCFs, for genomic medicine.

oimiragieo
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oimiragieo
更新于 3/6/2026
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quick start

Installation and usage

Query NCBI ClinVar for variant clinical significance. Search by gene/position, interpret pathogenicity classifications, access via E-utilities API or FTP, annotate VCFs, for genomic medicine.

安装
$ install --globalskills.sh
使用

安装后,您可以通过在终端运行以下命令来使用此技能:

skills use clinvar-database