Variation Hgvs To Spdi
variation_hgvs_to_spdiNormalize an HGVS expression to SPDI (sequence-position-deletion-insertion) contextual alleles via NCBI Variation Services. AUTHORITATIVE for turning a clinician- or paper-style variant string ("NC_000007.14:g.140753336A>T", "NM_004333.6:c.1799T>A") into the canonical, left-shifted coordinate form that dbSNP/ClinVar keys on, and for validating that an HGVS string is well-formed at all.
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| hgvs | Yes | HGVS expression on a RefSeq accession, e.g. "NC_000007.14:g.140753336A>T" or "NM_004333.6:c.1799T>A". |