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mutalyzer / mutalyzer2

HGVS variant nomenclature checker
https://mutalyzer.nl
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dbSNP to HGVS returns incorrect HGVS #453

Open GuyAllard opened 6 years ago

GuyAllard commented 6 years ago

e.g.

rs5030656 --> NC_000022.11:g.42128174_42128176delCTT

Checking if NC_000022.11:g.42128174_42128176delCTT is valid hgvs: Gives a warning and corrects to NC_000022.11:g.42128176_42128178del