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The Mutalyzer tool suite is designed to be of help when working with HGVS sequence variant nomenclature descriptions. Feedback is appreciated.

Normalizer

Takes a variant description as input and checks whether it is correct.
Examples: NG_012337.3(NM_003002.4):c.274G>TNC_000011.10:g.112088970delGRCh38(chr11):g.112088970del
Normalize

Mapper

Maps an HGVS description to another reference sequence.

Description Extractor

Generates the HGVS variant description from an observed and a reference sequence.