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"maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000376372.9:c.226G>T" }, "RefSeq": { "hgvs": "NM_001029896.2:c.226G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000365551.3:p.Glu76Ter" }, "RefSeq": { "hgvs": "NP_001025067.1:p.Glu76Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2499275610", "coordinates": [ { "allele": "T", "end": 722, "referenceAllele": "G", "start": 721 } ], "gene": "http://reg.genome.network/gene/GN028912", "geneNCBI_id": 11152, "geneSymbol": "WDR45", "hgvs": [ "NM_007075.4:c.226G>T" ], "proteinEffect": { "hgvs": "NP_009006.2:p.Glu76Ter", "hgvsWellDefined": 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