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    Detailed info

    Owner: sevilla_lab Position: exon 8 HAEUID: 202
    Nucleotide change Protein change
    Traditional: 16830G>A Traditional: Val458Met
    HUGO: g.18012G>A HUGO: p.Val480Met
    CDS: c.1438G>A Effect: polymorphism
    Reference: Unpublished sequence variation
    Family history: sporadic (negative) No. of cases: 3
    Notes: ND

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