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Variants (1)
| CIViC ID | Name | HGVS | Type(s) |
|---|---|---|---|
| 548 | RS557806 ARG251PRO,R251P | NM_014330.3:c.752G>C,NP_055145.3:p.Arg251Pro,ENST00000200453.5:c.752G>C,NC_000019.9:g.49377242G>C | missense_variant,polymorphic_sequence_variant |