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Detailed info
| Owner: | admin | Position: | exon 8 | HAEUID: | 103 |
| Nucleotide change | Protein change | ||||
| Traditional: | 16788C>A | Traditional: | Arg444Ser | ||
| HUGO: | g.17970C>A | HUGO: | p.Arg466Ser | ||
| CDS: | c.1396C>A | Effect: | pathogenic | ||
| Reference: | Aulak KS et al (FEBS Lett. 1990 Jun 18;266(1-2):13-6.) | ||||
| Family history: | unknown | No. of cases: | 0 | ||
| Notes: | ND | ||||
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