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Variants (5)
| CIViC ID | Name | HGVS | Type(s) |
|---|---|---|---|
| 634 | D194E ASP194GLU,RS786202134 | NC_000019.9:g.1220489C>A,NM_000455.4:c.582C>A,NP_000446.1:p.Asp194Glu,ENST00000326873.7:c.582C>A | missense_variant,loss_of_heterozygosity |
| 303 | EXON 1-2 MUTATION | exon_variant | |
| 485 | Loss | loss_of_function_variant | |
| 715 | Mutation | gene_variant | |
| 304 | Underexpression |