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Variants (4)
| CIViC ID | Name | HGVS | Type(s) |
|---|---|---|---|
| 467 | A1065T ALA1065THR,RS56302315 | NC_000004.11:g.55955969C>T,NM_002253.2:c.3193G>A,NP_002244.1:p.Ala1065Thr,ENST00000263923.4:c.3193G>A | missense_variant |
| 468 | D717V ASP717VAL | NC_000004.11:g.55968180T>A,ENST00000263923.4:c.2150A>T | missense_variant |
| 3350 | R1032Q | ||
| 502 | R961W ARG961TRP,RS530419081 | NC_000004.11:g.55961059G>A,NM_002253.2:c.2881C>T,NP_002244.1:p.Arg961Trp,ENST00000263923.4:c.2881C>T | missense_variant |