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"http://reg.genome.network/allele/PA2826029632", "coordinates": [ { "allele": "T", "end": 1561, "referenceAllele": "A", "start": 1560 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "NM_001166281.2:c.1447A>T" ], "proteinEffect": { "hgvs": "NP_001159753.1:p.Arg483Ter", "hgvsWellDefined": 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"http://reg.genome.network/allele/PA1139700597", "coordinates": [ { "allele": "T", "end": 1849, "referenceAllele": "A", "start": 1848 } ], "gene": "http://reg.genome.network/gene/GN007525", "geneNCBI_id": 4593, "geneSymbol": "MUSK", "hgvs": [ "NM_005592.4:c.1735A>T" ], "proteinEffect": { "hgvs": "NP_005583.1:p.Arg579Ter", "hgvsWellDefined": 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"maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374448.9:c.1735A>T" }, "RefSeq": { "hgvs": "NM_005592.4:c.1735A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000363571.4:p.Arg579Ter" }, "RefSeq": { "hgvs": "NP_005583.1:p.Arg579Ter" } } } } ], "type": "nucleotide" }