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"allele": "T", "end": 1584, "referenceAllele": "G", "start": 1583 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "XM_024447165.1:c.520G>T" ], "proteinEffect": { "hgvs": "XP_024302933.1:p.Glu174Ter", "hgvsWellDefined": 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"http://reg.genome.network/allele/PA658671875", "coordinates": [ { "allele": "T", "end": 1505, "referenceAllele": "G", "start": 1504 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "NM_002485.5:c.1399G>T" ], "proteinEffect": { "hgvs": "NP_002476.2:p.Glu467Ter", "hgvsWellDefined": 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"maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265433.8:c.1399G>T" }, "RefSeq": { "hgvs": "NM_002485.5:c.1399G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265433.4:p.Glu467Ter" }, "RefSeq": { "hgvs": "NP_002476.2:p.Glu467Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825335195", "coordinates": [ { "allele": "T", "end": 1555, "referenceAllele": "G", "start": 1554 } ], "gene": "http://reg.genome.network/gene/GN007652", "geneNCBI_id": 4683, "geneSymbol": "NBN", "hgvs": [ "NM_001024688.3:c.1153G>T" ], "proteinEffect": { "hgvs": "NP_001019859.1:p.Glu385Ter", "hgvsWellDefined": "NP_001019859.1:p.Glu385_Arg672delinsArgAspGluGluAsnGlnGluMetSerSerCysLysSerAlaArgIleGluThrSerCysSerLeuLeuGluGlnThrGlnProAlaThrProSerLeuTrpLysAsnLysGluGlnHisLeuSerGluAsnGluProValAspThrAsnSerAspAsnAsnLeuPheThrAspThrAspLeuLysSerIleValLysAsnSerAlaSerLysSerHisAlaAlaGluLysLeuArgSerAsnLysLysArgGluMetAspAspValAlaIleGluAspGluValLeuGluGlnLeuPheLysAspThrLysProGluLeuGluIleAspValLysValGlnLysGlnGluGluAspValAsnValArgLysArgProArgMetAspIleGluThrAsnAspThrPheSerAspGluAlaValProGluSerSerLysIleSerGlnGluAsnGluIleGlyLysLysArgGluLeuLysGluAspSerLeuTrpSerAlaLysGluIleSerAsnAsnAspLysLeuGlnAspAspSerGluMetLeuProLysLysLeuLeuLeuThrGluPheArgSerLeuValIleLysAsnSerThrSerArgAsnProSerGlyIleAsnAspAspTyrGlyGlnLeuLysAsnPheLysLysPheLysLysValThrTyrProGlyAlaGlyLysLeuProHisIleIleGlyGlySerAspLeuIleAlaHisHisAlaArgLysAsnThrGluLeuGluGluTrpLeuArgGlnGluMetGluValGlnAsnGlnHisAlaLysGluGluSerLeuAlaAspAspLeuPheArgTyrAsnProTyrLeuLysArgArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711440" } ], "type": "nucleotide" }