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  "communityStandardTitle": [
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        "hgvsWellDefined": "NP_001300936.1:p.Arg932_Cys1250delinsLeuArgProArgLeuAsnAlaIleLeuPheLysLeuGlnPheSerGluGlnValGluAsnIleLysProGluIleValSerValThrAlaAlaCysGluGluLeuArgLysSerGluSerPheSerAsnLeuLeuGluIleThrLeuLeuValGlyAsnTyrMetAsnAlaGlySerArgAsnAlaGlyAlaPheGlyPheAsnIleSerPheLeuCysLysLeuArgAspThrLysSerThrAspGlnLysMetThrLeuLeuHisPheLeuAlaGluLeuCysGluAsnAspTyrProAspValLeuLysPheProAspGluLeuAlaHisValGluLysAlaSerArgValSerAlaGluAsnLeuGlnLysAsnLeuAspGlnMetLysLysGlnIleSerAspValGluArgAspValGlnAsnPheProAlaAlaThrAspGluLysAspLysPheValGluLysMetThrSerPheValLysAspAlaGlnGluGlnTyrAsnLysLeuArgMetMetHisSerAsnMetGluThrLeuTyrLysGluLeuGlyGluTyrPheLeuPheAspProLysLysLeuSerValGluGluPhePheMetAspLeuHisAsnPheArgAsnMetPheLeuGlnAlaValLysGluAsnGlnLysArgArgGluThrGluGluLysMetArgArgAlaLysLeuAlaLysGluLysAlaGluLysGluArgLeuGluLysGlnGlnLysArgGluGlnLeuIleAspMetAsnAlaGluGlyAspGluThrGlyValMetAspSerLeuLeuGluAlaLeuGlnSerGlyAlaAlaPheArgArgLysArgGlyProArgGlnAspAsnLeuLeuCysProTrpGluValGluGluGluGluGluThrPheLysLeuProThrGlyArgProGlyValGlnSerHisLeuCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026512"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645490060",
      "coordinates": [
        {
          "allele": "T",
          "end": 2935,
          "referenceAllele": "C",
          "start": 2934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "NM_005219.4:c.2794C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005210.3:p.Arg932Ter",
        "hgvsWellDefined": "NP_005210.3:p.Arg932_Ser1272delinsLeuArgProArgLeuAsnAlaIleLeuPheLysLeuGlnPheSerGluGlnValGluAsnIleLysProGluIleValSerValThrAlaAlaCysGluGluLeuArgLysSerGluSerPheSerAsnLeuLeuGluIleThrLeuLeuValGlyAsnTyrMetAsnAlaGlySerArgAsnAlaGlyAlaPheGlyPheAsnIleSerPheLeuCysLysLeuArgAspThrLysSerThrAspGlnLysMetThrLeuLeuHisPheLeuAlaGluLeuCysGluAsnAspTyrProAspValLeuLysPheProAspGluLeuAlaHisValGluLysAlaSerArgValSerAlaGluAsnLeuGlnLysAsnLeuAspGlnMetLysLysGlnIleSerAspValGluArgAspValGlnAsnPheProAlaAlaThrAspGluLysAspLysPheValGluLysMetThrSerPheValLysAspAlaGlnGluGlnTyrAsnLysLeuArgMetMetHisSerAsnMetGluThrLeuTyrLysGluLeuGlyGluTyrPheLeuPheAspProLysLysLeuSerValGluGluPhePheMetAspLeuHisAsnPheArgAsnMetPheLeuGlnAlaValLysGluAsnGlnLysArgArgGluThrGluGluLysMetArgArgAlaLysLeuAlaLysGluLysAlaGluLysGluArgLeuGluLysGlnGlnLysArgGluGlnLeuIleAspMetAsnAlaGluGlyAspGluThrGlyValMetAspSerLeuLeuGluAlaLeuGlnSerGlyAlaAlaPheArgArgLysArgGlyProArgGlnAlaAsnArgLysAlaGlyCysAlaValThrSerLeuLeuAlaSerGluLeuThrLysAspAspAlaMetAlaAlaValProAlaLysValSerLysAsnSerGluThrPheProThrIleLeuGluGluAlaLysGluLeuValGlyArgAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030331"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2773,
          "referenceAllele": "C",
          "start": 2772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "XM_011537572.1:c.2758C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535874.1:p.Arg920Ter",
        "hgvsWellDefined": "XP_011535874.1:p.Arg920_Ser1260delinsLeuArgProArgLeuAsnAlaIleLeuPheLysLeuGlnPheSerGluGlnValGluAsnIleLysProGluIleValSerValThrAlaAlaCysGluGluLeuArgLysSerGluSerPheSerAsnLeuLeuGluIleThrLeuLeuValGlyAsnTyrMetAsnAlaGlySerArgAsnAlaGlyAlaPheGlyPheAsnIleSerPheLeuCysLysLeuArgAspThrLysSerThrAspGlnLysMetThrLeuLeuHisPheLeuAlaGluLeuCysGluAsnAspTyrProAspValLeuLysPheProAspGluLeuAlaHisValGluLysAlaSerArgValSerAlaGluAsnLeuGlnLysAsnLeuAspGlnMetLysLysGlnIleSerAspValGluArgAspValGlnAsnPheProAlaAlaThrAspGluLysAspLysPheValGluLysMetThrSerPheValLysAspAlaGlnGluGlnTyrAsnLysLeuArgMetMetHisSerAsnMetGluThrLeuTyrLysGluLeuGlyGluTyrPheLeuPheAspProLysLysLeuSerValGluGluPhePheMetAspLeuHisAsnPheArgAsnMetPheLeuGlnAlaValLysGluAsnGlnLysArgArgGluThrGluGluLysMetArgArgAlaLysLeuAlaLysGluLysAlaGluLysGluArgLeuGluLysGlnGlnLysArgGluGlnLeuIleAspMetAsnAlaGluGlyAspGluThrGlyValMetAspSerLeuLeuGluAlaLeuGlnSerGlyAlaAlaPheArgArgLysArgGlyProArgGlnAlaAsnArgLysAlaGlyCysAlaValThrSerLeuLeuAlaSerGluLeuThrLysAspAspAlaMetAlaAlaValProAlaLysValSerLysAsnSerGluThrPheProThrIleLeuGluGluAlaLysGluLeuValGlyArgAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104536"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2743,
          "referenceAllele": "C",
          "start": 2742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "XM_011537573.1:c.2728C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535875.1:p.Arg910Ter",
        "hgvsWellDefined": "XP_011535875.1:p.Arg910_Ser1250delinsLeuArgProArgLeuAsnAlaIleLeuPheLysLeuGlnPheSerGluGlnValGluAsnIleLysProGluIleValSerValThrAlaAlaCysGluGluLeuArgLysSerGluSerPheSerAsnLeuLeuGluIleThrLeuLeuValGlyAsnTyrMetAsnAlaGlySerArgAsnAlaGlyAlaPheGlyPheAsnIleSerPheLeuCysLysLeuArgAspThrLysSerThrAspGlnLysMetThrLeuLeuHisPheLeuAlaGluLeuCysGluAsnAspTyrProAspValLeuLysPheProAspGluLeuAlaHisValGluLysAlaSerArgValSerAlaGluAsnLeuGlnLysAsnLeuAspGlnMetLysLysGlnIleSerAspValGluArgAspValGlnAsnPheProAlaAlaThrAspGluLysAspLysPheValGluLysMetThrSerPheValLysAspAlaGlnGluGlnTyrAsnLysLeuArgMetMetHisSerAsnMetGluThrLeuTyrLysGluLeuGlyGluTyrPheLeuPheAspProLysLysLeuSerValGluGluPhePheMetAspLeuHisAsnPheArgAsnMetPheLeuGlnAlaValLysGluAsnGlnLysArgArgGluThrGluGluLysMetArgArgAlaLysLeuAlaLysGluLysAlaGluLysGluArgLeuGluLysGlnGlnLysArgGluGlnLeuIleAspMetAsnAlaGluGlyAspGluThrGlyValMetAspSerLeuLeuGluAlaLeuGlnSerGlyAlaAlaPheArgArgLysArgGlyProArgGlnAlaAsnArgLysAlaGlyCysAlaValThrSerLeuLeuAlaSerGluLeuThrLysAspAspAlaMetAlaAlaValProAlaLysValSerLysAsnSerGluThrPheProThrIleLeuGluGluAlaLysGluLeuValGlyArgAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104537"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2935,
          "referenceAllele": "C",
          "start": 2934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "XM_024454384.1:c.2794C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310152.1:p.Arg932Ter",
        "hgvsWellDefined": "XP_024310152.1:p.Arg932_Ser1313delinsLeuArgProArgLeuAsnAlaIleLeuPheLysLeuGlnPheSerGluGlnValGluAsnIleLysProGluIleValSerValThrAlaAlaCysGluGluLeuArgLysSerGluSerPheSerAsnLeuLeuGluIleThrLeuLeuValGlyAsnTyrMetAsnAlaGlySerArgAsnAlaGlyAlaPheGlyPheAsnIleSerPheLeuCysLysLeuArgAspThrLysSerThrAspGlnLysMetThrLeuLeuHisPheLeuAlaGluLeuCysGluAsnAspTyrProAspValLeuLysPheProAspGluLeuAlaHisValGluLysAlaSerArgValSerAlaGluAsnLeuGlnLysAsnLeuAspGlnMetLysLysGlnIleSerAspValGluArgAspValGlnAsnPheProAlaAlaThrAspGluLysAspLysPheValGluLysMetThrSerPheValLysAspAlaGlnGluGlnTyrAsnLysLeuArgMetMetHisSerAsnMetGluThrLeuTyrLysGluLeuGlyGluTyrPheLeuPheAspProLysLysLeuSerValGluGluPhePheMetAspLeuHisAsnPheArgAsnMetPheLeuValSerLysGlyTyrLeuLeuThrGluSerPheValGlyIleSerHisPheProLeuGlySerCysTrpLeuValValGlyIleGlnCysProCysValProSerSerSerSerLeuProGlnGlnAlaValLysGluAsnGlnLysArgArgGluThrGluGluLysMetArgArgAlaLysLeuAlaLysGluLysAlaGluLysGluArgLeuGluLysGlnGlnLysArgGluGlnLeuIleAspMetAsnAlaGluGlyAspGluThrGlyValMetAspSerLeuLeuGluAlaLeuGlnSerGlyAlaAlaPheArgArgLysArgGlyProArgGlnAlaAsnArgLysAlaGlyCysAlaValThrSerLeuLeuAlaSerGluLeuThrLysAspAspAlaMetAlaAlaValProAlaLysValSerLysAsnSerGluThrPheProThrIleLeuGluGluAlaLysGluLeuValGlyArgAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587746"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2859,
          "referenceAllele": "C",
          "start": 2858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "XM_024454385.1:c.2767C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310153.1:p.Arg923Ter",
        "hgvsWellDefined": "XP_024310153.1:p.Arg923_Ser1304delinsLeuArgProArgLeuAsnAlaIleLeuPheLysLeuGlnPheSerGluGlnValGluAsnIleLysProGluIleValSerValThrAlaAlaCysGluGluLeuArgLysSerGluSerPheSerAsnLeuLeuGluIleThrLeuLeuValGlyAsnTyrMetAsnAlaGlySerArgAsnAlaGlyAlaPheGlyPheAsnIleSerPheLeuCysLysLeuArgAspThrLysSerThrAspGlnLysMetThrLeuLeuHisPheLeuAlaGluLeuCysGluAsnAspTyrProAspValLeuLysPheProAspGluLeuAlaHisValGluLysAlaSerArgValSerAlaGluAsnLeuGlnLysAsnLeuAspGlnMetLysLysGlnIleSerAspValGluArgAspValGlnAsnPheProAlaAlaThrAspGluLysAspLysPheValGluLysMetThrSerPheValLysAspAlaGlnGluGlnTyrAsnLysLeuArgMetMetHisSerAsnMetGluThrLeuTyrLysGluLeuGlyGluTyrPheLeuPheAspProLysLysLeuSerValGluGluPhePheMetAspLeuHisAsnPheArgAsnMetPheLeuValSerLysGlyTyrLeuLeuThrGluSerPheValGlyIleSerHisPheProLeuGlySerCysTrpLeuValValGlyIleGlnCysProCysValProSerSerSerSerLeuProGlnGlnAlaValLysGluAsnGlnLysArgArgGluThrGluGluLysMetArgArgAlaLysLeuAlaLysGluLysAlaGluLysGluArgLeuGluLysGlnGlnLysArgGluGlnLeuIleAspMetAsnAlaGluGlyAspGluThrGlyValMetAspSerLeuLeuGluAlaLeuGlnSerGlyAlaAlaPheArgArgLysArgGlyProArgGlnAlaAsnArgLysAlaGlyCysAlaValThrSerLeuLeuAlaSerGluLeuThrLysAspAspAlaMetAlaAlaValProAlaLysValSerLysAsnSerGluThrPheProThrIleLeuGluGluAlaLysGluLeuValGlyArgAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3516,
          "referenceAllele": "C",
          "start": 3515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "XM_024454386.1:c.2758C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310154.1:p.Arg920Ter",
        "hgvsWellDefined": "XP_024310154.1:p.Arg920_Ser1301delinsLeuArgProArgLeuAsnAlaIleLeuPheLysLeuGlnPheSerGluGlnValGluAsnIleLysProGluIleValSerValThrAlaAlaCysGluGluLeuArgLysSerGluSerPheSerAsnLeuLeuGluIleThrLeuLeuValGlyAsnTyrMetAsnAlaGlySerArgAsnAlaGlyAlaPheGlyPheAsnIleSerPheLeuCysLysLeuArgAspThrLysSerThrAspGlnLysMetThrLeuLeuHisPheLeuAlaGluLeuCysGluAsnAspTyrProAspValLeuLysPheProAspGluLeuAlaHisValGluLysAlaSerArgValSerAlaGluAsnLeuGlnLysAsnLeuAspGlnMetLysLysGlnIleSerAspValGluArgAspValGlnAsnPheProAlaAlaThrAspGluLysAspLysPheValGluLysMetThrSerPheValLysAspAlaGlnGluGlnTyrAsnLysLeuArgMetMetHisSerAsnMetGluThrLeuTyrLysGluLeuGlyGluTyrPheLeuPheAspProLysLysLeuSerValGluGluPhePheMetAspLeuHisAsnPheArgAsnMetPheLeuValSerLysGlyTyrLeuLeuThrGluSerPheValGlyIleSerHisPheProLeuGlySerCysTrpLeuValValGlyIleGlnCysProCysValProSerSerSerSerLeuProGlnGlnAlaValLysGluAsnGlnLysArgArgGluThrGluGluLysMetArgArgAlaLysLeuAlaLysGluLysAlaGluLysGluArgLeuGluLysGlnGlnLysArgGluGlnLeuIleAspMetAsnAlaGluGlyAspGluThrGlyValMetAspSerLeuLeuGluAlaLeuGlnSerGlyAlaAlaPheArgArgLysArgGlyProArgGlnAlaAsnArgLysAlaGlyCysAlaValThrSerLeuLeuAlaSerGluLeuThrLysAspAspAlaMetAlaAlaValProAlaLysValSerLysAsnSerGluThrPheProThrIleLeuGluGluAlaLysGluLeuValGlyArgAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587748"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2743,
          "referenceAllele": "C",
          "start": 2742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "XM_024454387.1:c.2728C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310155.1:p.Arg910Ter",
        "hgvsWellDefined": "XP_024310155.1:p.Arg910_Ser1291delinsLeuArgProArgLeuAsnAlaIleLeuPheLysLeuGlnPheSerGluGlnValGluAsnIleLysProGluIleValSerValThrAlaAlaCysGluGluLeuArgLysSerGluSerPheSerAsnLeuLeuGluIleThrLeuLeuValGlyAsnTyrMetAsnAlaGlySerArgAsnAlaGlyAlaPheGlyPheAsnIleSerPheLeuCysLysLeuArgAspThrLysSerThrAspGlnLysMetThrLeuLeuHisPheLeuAlaGluLeuCysGluAsnAspTyrProAspValLeuLysPheProAspGluLeuAlaHisValGluLysAlaSerArgValSerAlaGluAsnLeuGlnLysAsnLeuAspGlnMetLysLysGlnIleSerAspValGluArgAspValGlnAsnPheProAlaAlaThrAspGluLysAspLysPheValGluLysMetThrSerPheValLysAspAlaGlnGluGlnTyrAsnLysLeuArgMetMetHisSerAsnMetGluThrLeuTyrLysGluLeuGlyGluTyrPheLeuPheAspProLysLysLeuSerValGluGluPhePheMetAspLeuHisAsnPheArgAsnMetPheLeuValSerLysGlyTyrLeuLeuThrGluSerPheValGlyIleSerHisPheProLeuGlySerCysTrpLeuValValGlyIleGlnCysProCysValProSerSerSerSerLeuProGlnGlnAlaValLysGluAsnGlnLysArgArgGluThrGluGluLysMetArgArgAlaLysLeuAlaLysGluLysAlaGluLysGluArgLeuGluLysGlnGlnLysArgGluGlnLeuIleAspMetAsnAlaGluGlyAspGluThrGlyValMetAspSerLeuLeuGluAlaLeuGlnSerGlyAlaAlaPheArgArgLysArgGlyProArgGlnAlaAsnArgLysAlaGlyCysAlaValThrSerLeuLeuAlaSerGluLeuThrLysAspAspAlaMetAlaAlaValProAlaLysValSerLysAsnSerGluThrPheProThrIleLeuGluGluAlaLysGluLeuValGlyArgAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645490060",
      "coordinates": [
        {
          "allele": "T",
          "end": 2880,
          "referenceAllele": "C",
          "start": 2879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "NM_005219.5:c.2794C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005210.3:p.Arg932Ter",
        "hgvsWellDefined": "NP_005210.3:p.Arg932_Ser1272delinsLeuArgProArgLeuAsnAlaIleLeuPheLysLeuGlnPheSerGluGlnValGluAsnIleLysProGluIleValSerValThrAlaAlaCysGluGluLeuArgLysSerGluSerPheSerAsnLeuLeuGluIleThrLeuLeuValGlyAsnTyrMetAsnAlaGlySerArgAsnAlaGlyAlaPheGlyPheAsnIleSerPheLeuCysLysLeuArgAspThrLysSerThrAspGlnLysMetThrLeuLeuHisPheLeuAlaGluLeuCysGluAsnAspTyrProAspValLeuLysPheProAspGluLeuAlaHisValGluLysAlaSerArgValSerAlaGluAsnLeuGlnLysAsnLeuAspGlnMetLysLysGlnIleSerAspValGluArgAspValGlnAsnPheProAlaAlaThrAspGluLysAspLysPheValGluLysMetThrSerPheValLysAspAlaGlnGluGlnTyrAsnLysLeuArgMetMetHisSerAsnMetGluThrLeuTyrLysGluLeuGlyGluTyrPheLeuPheAspProLysLysLeuSerValGluGluPhePheMetAspLeuHisAsnPheArgAsnMetPheLeuGlnAlaValLysGluAsnGlnLysArgArgGluThrGluGluLysMetArgArgAlaLysLeuAlaLysGluLysAlaGluLysGluArgLeuGluLysGlnGlnLysArgGluGlnLeuIleAspMetAsnAlaGluGlyAspGluThrGlyValMetAspSerLeuLeuGluAlaLeuGlnSerGlyAlaAlaPheArgArgLysArgGlyProArgGlnAlaAsnArgLysAlaGlyCysAlaValThrSerLeuLeuAlaSerGluLeuThrLysAspAspAlaMetAlaAlaValProAlaLysValSerLysAsnSerGluThrPheProThrIleLeuGluGluAlaLysGluLeuValGlyArgAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666866",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389054.8:c.2794C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005219.5:c.2794C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373706.4:p.Arg932Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005210.3:p.Arg932Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825447099",
      "coordinates": [
        {
          "allele": "T",
          "end": 2853,
          "referenceAllele": "C",
          "start": 2852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "NM_001079812.3:c.2767C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073280.1:p.Arg923Ter",
        "hgvsWellDefined": "NP_001073280.1:p.Arg923_Ser1263delinsLeuArgProArgLeuAsnAlaIleLeuPheLysLeuGlnPheSerGluGlnValGluAsnIleLysProGluIleValSerValThrAlaAlaCysGluGluLeuArgLysSerGluSerPheSerAsnLeuLeuGluIleThrLeuLeuValGlyAsnTyrMetAsnAlaGlySerArgAsnAlaGlyAlaPheGlyPheAsnIleSerPheLeuCysLysLeuArgAspThrLysSerThrAspGlnLysMetThrLeuLeuHisPheLeuAlaGluLeuCysGluAsnAspTyrProAspValLeuLysPheProAspGluLeuAlaHisValGluLysAlaSerArgValSerAlaGluAsnLeuGlnLysAsnLeuAspGlnMetLysLysGlnIleSerAspValGluArgAspValGlnAsnPheProAlaAlaThrAspGluLysAspLysPheValGluLysMetThrSerPheValLysAspAlaGlnGluGlnTyrAsnLysLeuArgMetMetHisSerAsnMetGluThrLeuTyrLysGluLeuGlyGluTyrPheLeuPheAspProLysLysLeuSerValGluGluPhePheMetAspLeuHisAsnPheArgAsnMetPheLeuGlnAlaValLysGluAsnGlnLysArgArgGluThrGluGluLysMetArgArgAlaLysLeuAlaLysGluLysAlaGluLysGluArgLeuGluLysGlnGlnLysArgGluGlnLeuIleAspMetAsnAlaGluGlyAspGluThrGlyValMetAspSerLeuLeuGluAlaLeuGlnSerGlyAlaAlaPheArgArgLysArgGlyProArgGlnAlaAsnArgLysAlaGlyCysAlaValThrSerLeuLeuAlaSerGluLeuThrLysAspAspAlaMetAlaAlaValProAlaLysValSerLysAsnSerGluThrPheProThrIleLeuGluGluAlaLysGluLeuValGlyArgAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676223"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826949242",
      "coordinates": [
        {
          "allele": "T",
          "end": 2880,
          "referenceAllele": "C",
          "start": 2879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002876",
      "geneNCBI_id": 1729,
      "geneSymbol": "DIAPH1",
      "hgvs": [
        "NM_001314007.2:c.2794C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001300936.1:p.Arg932Ter",
        "hgvsWellDefined": "NP_001300936.1:p.Arg932_Cys1250delinsLeuArgProArgLeuAsnAlaIleLeuPheLysLeuGlnPheSerGluGlnValGluAsnIleLysProGluIleValSerValThrAlaAlaCysGluGluLeuArgLysSerGluSerPheSerAsnLeuLeuGluIleThrLeuLeuValGlyAsnTyrMetAsnAlaGlySerArgAsnAlaGlyAlaPheGlyPheAsnIleSerPheLeuCysLysLeuArgAspThrLysSerThrAspGlnLysMetThrLeuLeuHisPheLeuAlaGluLeuCysGluAsnAspTyrProAspValLeuLysPheProAspGluLeuAlaHisValGluLysAlaSerArgValSerAlaGluAsnLeuGlnLysAsnLeuAspGlnMetLysLysGlnIleSerAspValGluArgAspValGlnAsnPheProAlaAlaThrAspGluLysAspLysPheValGluLysMetThrSerPheValLysAspAlaGlnGluGlnTyrAsnLysLeuArgMetMetHisSerAsnMetGluThrLeuTyrLysGluLeuGlyGluTyrPheLeuPheAspProLysLysLeuSerValGluGluPhePheMetAspLeuHisAsnPheArgAsnMetPheLeuGlnAlaValLysGluAsnGlnLysArgArgGluThrGluGluLysMetArgArgAlaLysLeuAlaLysGluLysAlaGluLysGluArgLeuGluLysGlnGlnLysArgGluGlnLeuIleAspMetAsnAlaGluGlyAspGluThrGlyValMetAspSerLeuLeuGluAlaLeuGlnSerGlyAlaAlaPheArgArgLysArgGlyProArgGlnAspAsnLeuLeuCysProTrpGluValGluGluGluGluGluThrPheLysLeuProThrGlyArgProGlyValGlnSerHisLeuCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684120"
    }
  ],
  "type": "nucleotide"
}