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Cortexa research tool·genomics·mutalyzer
Mutalyzer Normalize Variant
Validate and normalize an HGVS variant description using Mutalyzer. Returns the corrected/normalized HGVS notation, predicted protein effect, RNA description, and gene symbol. Essential for clinical variant interpretation - ensures HGVS nomenclature compliance and predicts amino acid changes. Accepts coding DNA (c.), genomic (g.), protein (p.), or RNA (r.) variant descriptions. Example: 'NM_003002.4:c.274G>T' normalizes to a SDHD missense variant with protein prediction p.(Asp92Tyr).
AvailableCortexa
Schema
JSON Schema the agent (or your API call) must match.
JSON · 12 lines · 344 chars
Examples (1)
Default Mutalyzer Normalize Variant call
public-safeinput
JSON · 3 lines · 19 chars
Expected response keys: success
Anonymous-safe example. Rate-limited; no sign-in required.
Identifiers
- Catalog ID
- tu_Mutalyzer_normalize_variant
- Tool name
- Mutalyzer_normalize_variant
- Added
- 2026-04-30 22:47Z
- Tags
- tooluniverse