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Variants (3)
| CIViC ID | Name | HGVS | Type(s) |
|---|---|---|---|
| 299 | D473H ASP473HIS | NM_005631.4:c.1417G>A,NP_005622.1:p.Asp473His,ENST00000249373.3:c.1417G>A,NC_000007.13:g.128849189G>C | missense_variant |
| 1570 | L412F | NM_005631.4:c.1234C>T,NP_005622.1:p.Leu412Phe,NC_000007.13:g.128846398C>T,ENST00000249373.3:c.1234C>T | missense_variant |
| 300 | Mutation | coding_transcript_variant |