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  1. NIF
  2. NIF-11776

HGVS notation for (at least) human mutations

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    • NIF
    • Issues closed as MONARCH has transitioned from UCSD services

    Description

      All human mutations should be displayed by default in HGVS notation. This will require some re-ingestion and/or joining to ENSEMBL to get it. In particular, it needs to be done for OMIM (nif_0000_03216).

      It would be good to have the option to display all variants in HGVS notation, even if it is in another species!

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            nlw Nicole Washington
            nlw Nicole Washington
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