clinvar-database
ClinVar
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.
这页展示的是上游仓库条目,不代表已进入 SCI Skills 精选目录。
- 原始路径
- scientific-skills/clinvar-database
- 允许工具
- -
- 仓库版本
- 2.31.0
- 同步时间
- 2026年3月27日
条目说明
条目说明
ClinVar is NCBI's freely accessible archive of reports on relationships between human genetic variants and phenotypes, with supporting evidence. The database aggregates information about genomic variation and its relationship to human health, providing standardized variant classifications used in clinical genetics and research.
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