Evidence-backed facts
- NCBI Variation Services expose variant normalization, representation translation, SPDI, HGVS-related transformations, reference sequences, placements, and associated public variation data. informative
- Public reads require no user credential and do not grant ClinVar submission, curation, reference-sequence mutation, diagnostic, or regulatory authority. informative
- Clients must bind assembly or reference accession, sequence position, deleted and inserted sequence, notation, endpoint, and response representation and handle ambiguous or failed normalization. informative
- Normalized representation is not evidence of variant presence, zygosity, pathogenicity, phenotype, sample identity, clinical significance, or consistency across genome assemblies. informative