{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA371199990",
  "communityStandardTitle": [
    "NM_006421.5(ARFGEF1):c.3697C>T (p.Gln1233Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=984028[alleleid]",
        "alleleId": 984028,
        "preferredName": "NM_006421.5(ARFGEF1):c.3697C>T (p.Gln1233Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/996320",
        "RCV": [
          "RCV001290729"
        ],
        "variationId": 996320
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.68139728G>A?assembly=hg19",
        "id": "chr8:g.68139728G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.67227493G>A?assembly=hg38",
        "id": "chr8:g.67227493G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1308211020",
        "rs": 1308211020
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-68139728-G-A?dataset=gnomad_r2_1",
        "id": "8-68139728-G-A",
        "variant": "8:68139728 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-67227493-G-A?dataset=gnomad_r4",
        "id": "8-67227493-G-A",
        "variant": "8:67227493 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 67227493,
          "referenceAllele": "G",
          "start": 67227492
        }
      ],
      "hgvs": [
        "NC_000008.11:g.67227493G>A",
        "CM000670.2:g.67227493G>A"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 68139728,
          "referenceAllele": "G",
          "start": 68139727
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      ],
      "hgvs": [
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        "CM000670.1:g.68139728G>A"
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 68302282,
          "referenceAllele": "G",
          "start": 68302281
        }
      ],
      "hgvs": [
        "NC_000008.9:g.68302282G>A"
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    }
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  "transcriptAlleles": [
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      "geneNCBI_id": 10565,
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS742301",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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          },
          "RefSeq": {
            "hgvs": "NM_006421.5:c.3697C>T"
          }
        },
        "protein": {
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            "hgvs": "ENSP00000262215.3:p.Gln1233Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006412.2:p.Gln1233Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4087,
          "referenceAllele": "C",
          "start": 4086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015772",
      "geneNCBI_id": 10565,
      "geneSymbol": "ARFGEF1",
      "hgvs": [
        "ENST00000262215.7:c.3697C>T"
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250960"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 579,
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          "start": 578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015772",
      "geneNCBI_id": 10565,
      "geneSymbol": "ARFGEF1",
      "hgvs": [
        "ENST00000518230.5:c.579C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS345731"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2132,
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      ],
      "gene": "http://reg.genome.network/gene/GN015772",
      "geneNCBI_id": 10565,
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      "hgvs": [
        "ENST00000520381.5:c.2132C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS347439"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499274024",
      "coordinates": [
        {
          "allele": "T",
          "end": 4087,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN015772",
      "geneNCBI_id": 10565,
      "geneSymbol": "ARFGEF1",
      "hgvs": [
        "NM_006421.4:c.3697C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_006412.2:p.Gln1233_Gln1849delinsLysAspPheLeuArgProPheGluHisIleMetLysArgAsnArgSerProThrIleArgAspMetValValArgCysIleAlaGlnMetValAsnSerGlnAlaAlaAsnIleArgSerGlyTrpLysAsnIlePheSerValPheHisLeuAlaAlaSerAspGlnAspGluSerIleValGluLeuAlaPheGlnThrThrGlyHisIleValThrLeuValPheGluLysHisPheProAlaThrIleAspSerPheGlnAspAlaValLysCysLeuSerGluPheAlaCysAsnAlaAlaPheProAspThrSerMetGluAlaIleArgLeuIleArgHisCysAlaLysTyrValSerAspArgProGlnAlaPheLysGluTyrThrSerAspAspMetAsnValAlaProGluAspArgValTrpValArgGlyTrpPheProIleLeuPheGluLeuSerCysIleIleAsnArgCysLysLeuAspValArgThrArgGlyLeuThrValMetPheGluIleMetLysThrTyrGlyHisThrTyrGluLysHisTrpTrpGlnAspLeuPheArgIleValPheArgIlePheAspAsnMetLysLeuProGluGlnGlnThrGluLysAlaGluTrpMetThrThrThrCysAsnHisAlaLeuTyrAlaIleCysAspValPheThrGlnTyrLeuGluValLeuSerAspValLeuLeuAspAspIlePheAlaGlnLeuTyrTrpCysValGlnGlnAspAsnGluGlnLeuAlaArgSerGlyThrAsnCysLeuGluAsnValValIleLeuAsnGlyGluLysPheThrLeuGluIleTrpAspLysThrCysAsnCysThrLeuAspIlePheLysThrThrIleProHisAlaLeuLeuThrTrpArgProAsnSerGlyGluThrAlaProProProProSerProValSerGluLysProLeuAspThrIleSerGlnLysSerValAspIleHisAspSerIleGlnProArgSerValAspAsnArgProGlnAlaProLeuValSerAlaSerAlaValAsnGluGluValSerLysIleLysSerThrAlaLysPheProGluGlnLysLeuPheAlaAlaLeuLeuIleLysCysValValGlnLeuGluLeuIleGlnThrIleAspAsnIleValPhePheProAlaThrSerLysLysGluAspAlaGluAsnLeuAlaAlaAlaGlnArgAspAlaValAspPheAspValArgValAspThrGlnAspGlnGlyMetTyrArgPheLeuThrSerGlnGlnLeuPheLysLeuLeuAspCysLeuLeuGluSerHisArgPheAlaLysAlaPheAsnSerAsnAsnGluGlnArgThrAlaLeuTrpLysAlaGlyPheLysGlyLysSerLysProAsnLeuLeuLysGlnGluThrSerSerLeuAlaCysGlyLeuArgIleLeuPheArgMetTyrMetAspGluSerArgValSerAlaTrpGluGluValGlnGlnArgLeuLeuAsnValCysSerGluAlaLeuSerTyrPheLeuThrLeuThrSerGluSerHisArgGluAlaTrpThrAsnLeuLeuLeuLeuPheLeuThrLysValLeuLysIleSerAspAsnArgPheLysAlaHisAlaSerPheTyrTyrProLeuLeuCysGluIleMetGlnPheAspLeuIleProGluLeuArgAlaValLeuArgArgPhePheLeuArgIleGlyValValPheGlnIleSerGlnProProGluGlnGluLeuGlyIleAsnLysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031436"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4134,
          "referenceAllele": "C",
          "start": 4133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015772",
      "geneNCBI_id": 10565,
      "geneSymbol": "ARFGEF1",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_005251191.1:p.Gln1233_Gln1849delinsLysAspPheLeuArgProPheGluHisIleMetLysArgAsnArgSerProThrIleArgAspMetValValArgCysIleAlaGlnMetValAsnSerGlnAlaAlaAsnIleArgSerGlyTrpLysAsnIlePheSerValPheHisLeuAlaAlaSerAspGlnAspGluSerIleValGluLeuAlaPheGlnThrThrGlyHisIleValThrLeuValPheGluLysHisPheProAlaThrIleAspSerPheGlnAspAlaValLysCysLeuSerGluPheAlaCysAsnAlaAlaPheProAspThrSerMetGluAlaIleArgLeuIleArgHisCysAlaLysTyrValSerAspArgProGlnAlaPheLysGluTyrThrSerAspAspMetAsnValAlaProGluAspArgValTrpValArgGlyTrpPheProIleLeuPheGluLeuSerCysIleIleAsnArgCysLysLeuAspValArgThrArgGlyLeuThrValMetPheGluIleMetLysThrTyrGlyHisThrTyrGluLysHisTrpTrpGlnAspLeuPheArgIleValPheArgIlePheAspAsnMetLysLeuProGluGlnGlnThrGluLysAlaGluTrpMetThrThrThrCysAsnHisAlaLeuTyrAlaIleCysAspValPheThrGlnTyrLeuGluValLeuSerAspValLeuLeuAspAspIlePheAlaGlnLeuTyrTrpCysValGlnGlnAspAsnGluGlnLeuAlaArgSerGlyThrAsnCysLeuGluAsnValValIleLeuAsnGlyGluLysPheThrLeuGluIleTrpAspLysThrCysAsnCysThrLeuAspIlePheLysThrThrIleProHisAlaLeuLeuThrTrpArgProAsnSerGlyGluThrAlaProProProProSerProValSerGluLysProLeuAspThrIleSerGlnLysSerValAspIleHisAspSerIleGlnProArgSerValAspAsnArgProGlnAlaProLeuValSerAlaSerAlaValAsnGluGluValSerLysIleLysSerThrAlaLysPheProGluGlnLysLeuPheAlaAlaLeuLeuIleLysCysValValGlnLeuGluLeuIleGlnThrIleAspAsnIleValPhePheProAlaThrSerLysLysGluAspAlaGluAsnLeuAlaAlaAlaGlnArgAspAlaValAspPheAspValArgValAspThrGlnAspGlnGlyMetTyrArgPheLeuThrSerGlnGlnLeuPheLysLeuLeuAspCysLeuLeuGluSerHisArgPheAlaLysAlaPheAsnSerAsnAsnGluGlnArgThrAlaLeuTrpLysAlaGlyPheLysGlyLysSerLysProAsnLeuLeuLysGlnGluThrSerSerLeuAlaCysGlyLeuArgIleLeuPheArgMetTyrMetAspGluSerArgValSerAlaTrpGluGluValGlnGlnArgLeuLeuAsnValCysSerGluAlaLeuSerTyrPheLeuThrLeuThrSerGluSerHisArgGluAlaTrpThrAsnLeuLeuLeuLeuPheLeuThrLysValLeuLysIleSerAspAsnArgPheLysAlaHisAlaSerPheTyrTyrProLeuLeuCysGluIleMetGlnPheAspLeuIleProGluLeuArgAlaValLeuArgArgPhePheLeuArgIleGlyValValPheGlnIleSerGlnProProGluGlnGluLeuGlyIleAsnLysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059439"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4307,
          "referenceAllele": "C",
          "start": 4306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015772",
      "geneNCBI_id": 10565,
      "geneSymbol": "ARFGEF1",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_005251192.1:p.Gln1233Ter",
        "hgvsWellDefined": "XP_005251192.1:p.Gln1233_Gln1843delinsLysAspPheLeuArgProPheGluHisIleMetLysArgAsnArgSerProThrIleArgAspMetValValArgCysIleAlaGlnMetValAsnSerGlnAlaAlaAsnIleArgSerGlyTrpLysAsnIlePheSerValPheHisLeuAlaAlaSerAspGlnAspGluSerIleValGluLeuAlaPheGlnThrThrGlyHisIleValThrLeuValPheGluLysHisPheProAlaThrIleAspSerPheGlnAspAlaValLysCysLeuSerGluPheAlaCysAsnAlaAlaPheProAspThrSerMetGluAlaIleArgLeuIleArgHisCysAlaLysTyrValSerAspArgProGlnAlaPheLysGluTyrThrSerAspAspMetAsnValAlaProGluAspArgValTrpValArgGlyTrpPheProIleLeuPheGluLeuSerCysIleIleAsnArgCysLysLeuAspValArgThrArgGlyLeuThrValMetPheGluIleMetLysThrTyrGlyHisThrTyrGluLysHisTrpTrpGlnAspLeuPheArgIleValPheArgIlePheAspAsnMetLysLeuProGluGlnGlnThrGluLysAlaGluTrpMetThrThrThrCysAsnHisAlaLeuTyrAlaIleCysAspValPheThrGlnTyrLeuGluValLeuSerAspValLeuLeuAspAspIlePheAlaGlnLeuTyrTrpCysValGlnGlnAspAsnGluGlnLeuAlaArgSerGlyThrAsnCysLeuGluAsnValValIleLeuAsnGlyGluLysPheThrLeuGluIleTrpAspLysThrCysAsnCysThrLeuAspIlePheLysThrThrIleProHisAlaLeuLeuThrTrpArgProAsnSerGlyGluThrAlaProProProProSerProAspThrIleSerGlnLysSerValAspIleHisAspSerIleGlnProArgSerValAspAsnArgProGlnAlaProLeuValSerAlaSerAlaValAsnGluGluValSerLysIleLysSerThrAlaLysPheProGluGlnLysLeuPheAlaAlaLeuLeuIleLysCysValValGlnLeuGluLeuIleGlnThrIleAspAsnIleValPhePheProAlaThrSerLysLysGluAspAlaGluAsnLeuAlaAlaAlaGlnArgAspAlaValAspPheAspValArgValAspThrGlnAspGlnGlyMetTyrArgPheLeuThrSerGlnGlnLeuPheLysLeuLeuAspCysLeuLeuGluSerHisArgPheAlaLysAlaPheAsnSerAsnAsnGluGlnArgThrAlaLeuTrpLysAlaGlyPheLysGlyLysSerLysProAsnLeuLeuLysGlnGluThrSerSerLeuAlaCysGlyLeuArgIleLeuPheArgMetTyrMetAspGluSerArgValSerAlaTrpGluGluValGlnGlnArgLeuLeuAsnValCysSerGluAlaLeuSerTyrPheLeuThrLeuThrSerGluSerHisArgGluAlaTrpThrAsnLeuLeuLeuLeuPheLeuThrLysValLeuLysIleSerAspAsnArgPheLysAlaHisAlaSerPheTyrTyrProLeuLeuCysGluIleMetGlnPheAspLeuIleProGluLeuArgAlaValLeuArgArgPhePheLeuArgIleGlyValValPheGlnIleSerGlnProProGluGlnGluLeuGlyIleAsnLysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059440"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4307,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN015772",
      "geneNCBI_id": 10565,
      "geneSymbol": "ARFGEF1",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_005251193.1:p.Gln1233Ter",
        "hgvsWellDefined": "XP_005251193.1:p.Gln1233_Leu1800delinsLysAspPheLeuArgProPheGluHisIleMetLysArgAsnArgSerProThrIleArgAspMetValValArgCysIleAlaGlnMetValAsnSerGlnAlaAlaAsnIleArgSerGlyTrpLysAsnIlePheSerValPheHisLeuAlaAlaSerAspGlnAspGluSerIleValGluLeuAlaPheGlnThrThrGlyHisIleValThrLeuValPheGluLysHisPheProAlaThrIleAspSerPheGlnAspAlaValLysCysLeuSerGluPheAlaCysAsnAlaAlaPheProAspThrSerMetGluAlaIleArgLeuIleArgHisCysAlaLysTyrValSerAspArgProGlnAlaPheLysGluTyrThrSerAspAspMetAsnValAlaProGluAspArgValTrpValArgGlyTrpPheProIleLeuPheGluLeuSerCysIleIleAsnArgCysLysLeuAspValArgThrArgGlyLeuThrValMetPheGluIleMetLysThrTyrGlyHisThrTyrGluLysHisTrpTrpGlnAspLeuPheArgIleValPheArgIlePheAspAsnMetLysLeuProGluGlnGlnThrGluLysAlaGluTrpMetThrThrThrCysAsnHisAlaLeuTyrAlaIleCysAspValPheThrGlnTyrLeuGluValLeuSerAspValLeuLeuAspAspIlePheAlaGlnLeuTyrTrpCysValGlnGlnAspAsnGluGlnLeuAlaArgSerGlyThrAsnCysLeuGluAsnValValIleLeuAsnGlyGluLysPheThrLeuGluIleTrpAspLysThrCysAsnCysThrLeuAspIlePheLysThrThrIleProHisAlaLeuLeuThrTrpArgProAsnSerGlyGluThrAlaProProProProSerProValSerGluLysProLeuAspThrIleSerGlnLysSerValAspIleHisAspSerIleGlnProArgSerValAspAsnArgProGlnAlaProLeuValSerAlaSerAlaValAsnGluGluValSerLysIleLysSerThrAlaLysPheProGluGlnLysLeuPheAlaAlaLeuLeuIleLysCysValValGlnLeuGluLeuIleGlnThrIleAspAsnIleValPhePheProAlaThrSerLysLysGluAspAlaGluAsnLeuAlaAlaAlaGlnArgAspAlaValAspPheAspValArgValAspThrGlnAspGlnGlyMetTyrArgPheLeuThrSerGlnGlnLeuPheLysLeuLeuAspCysLeuLeuGluSerHisArgPheAlaLysAlaPheAsnSerAsnAsnGluGlnArgThrAlaLeuTrpLysAlaGlyPheLysGlyLysSerLysProAsnLeuLeuLysGlnGluThrSerSerLeuAlaCysGlyLeuArgIleLeuPheArgMetTyrMetAspGluSerArgValSerAlaTrpGluGluValGlnGlnArgLeuLeuAsnValCysSerGluAlaLeuSerTyrPheLeuThrLeuThrSerGluSerHisArgGluAlaTrpThrAsnLeuLeuLeuLeuPheLeuThrLysValLeuLysIleSerAspAsnArgThrLysArgThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059441"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4343,
          "referenceAllele": "C",
          "start": 4342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015772",
      "geneNCBI_id": 10565,
      "geneSymbol": "ARFGEF1",
      "hgvs": [
        "XM_011517442.1:c.3097C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515744.1:p.Gln1033Ter",
        "hgvsWellDefined": "XP_011515744.1:p.Gln1033_Gln1649delinsLysAspPheLeuArgProPheGluHisIleMetLysArgAsnArgSerProThrIleArgAspMetValValArgCysIleAlaGlnMetValAsnSerGlnAlaAlaAsnIleArgSerGlyTrpLysAsnIlePheSerValPheHisLeuAlaAlaSerAspGlnAspGluSerIleValGluLeuAlaPheGlnThrThrGlyHisIleValThrLeuValPheGluLysHisPheProAlaThrIleAspSerPheGlnAspAlaValLysCysLeuSerGluPheAlaCysAsnAlaAlaPheProAspThrSerMetGluAlaIleArgLeuIleArgHisCysAlaLysTyrValSerAspArgProGlnAlaPheLysGluTyrThrSerAspAspMetAsnValAlaProGluAspArgValTrpValArgGlyTrpPheProIleLeuPheGluLeuSerCysIleIleAsnArgCysLysLeuAspValArgThrArgGlyLeuThrValMetPheGluIleMetLysThrTyrGlyHisThrTyrGluLysHisTrpTrpGlnAspLeuPheArgIleValPheArgIlePheAspAsnMetLysLeuProGluGlnGlnThrGluLysAlaGluTrpMetThrThrThrCysAsnHisAlaLeuTyrAlaIleCysAspValPheThrGlnTyrLeuGluValLeuSerAspValLeuLeuAspAspIlePheAlaGlnLeuTyrTrpCysValGlnGlnAspAsnGluGlnLeuAlaArgSerGlyThrAsnCysLeuGluAsnValValIleLeuAsnGlyGluLysPheThrLeuGluIleTrpAspLysThrCysAsnCysThrLeuAspIlePheLysThrThrIleProHisAlaLeuLeuThrTrpArgProAsnSerGlyGluThrAlaProProProProSerProValSerGluLysProLeuAspThrIleSerGlnLysSerValAspIleHisAspSerIleGlnProArgSerValAspAsnArgProGlnAlaProLeuValSerAlaSerAlaValAsnGluGluValSerLysIleLysSerThrAlaLysPheProGluGlnLysLeuPheAlaAlaLeuLeuIleLysCysValValGlnLeuGluLeuIleGlnThrIleAspAsnIleValPhePheProAlaThrSerLysLysGluAspAlaGluAsnLeuAlaAlaAlaGlnArgAspAlaValAspPheAspValArgValAspThrGlnAspGlnGlyMetTyrArgPheLeuThrSerGlnGlnLeuPheLysLeuLeuAspCysLeuLeuGluSerHisArgPheAlaLysAlaPheAsnSerAsnAsnGluGlnArgThrAlaLeuTrpLysAlaGlyPheLysGlyLysSerLysProAsnLeuLeuLysGlnGluThrSerSerLeuAlaCysGlyLeuArgIleLeuPheArgMetTyrMetAspGluSerArgValSerAlaTrpGluGluValGlnGlnArgLeuLeuAsnValCysSerGluAlaLeuSerTyrPheLeuThrLeuThrSerGluSerHisArgGluAlaTrpThrAsnLeuLeuLeuLeuPheLeuThrLysValLeuLysIleSerAspAsnArgPheLysAlaHisAlaSerPheTyrTyrProLeuLeuCysGluIleMetGlnPheAspLeuIleProGluLeuArgAlaValLeuArgArgPhePheLeuArgIleGlyValValPheGlnIleSerGlnProProGluGlnGluLeuGlyIleAsnLysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084640"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4061,
          "referenceAllele": "C",
          "start": 4060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015772",
      "geneNCBI_id": 10565,
      "geneSymbol": "ARFGEF1",
      "hgvs": [
        "XM_005251134.5:c.3697C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251191.1:p.Gln1233Ter",
        "hgvsWellDefined": "XP_005251191.1:p.Gln1233_Gln1849delinsLysAspPheLeuArgProPheGluHisIleMetLysArgAsnArgSerProThrIleArgAspMetValValArgCysIleAlaGlnMetValAsnSerGlnAlaAlaAsnIleArgSerGlyTrpLysAsnIlePheSerValPheHisLeuAlaAlaSerAspGlnAspGluSerIleValGluLeuAlaPheGlnThrThrGlyHisIleValThrLeuValPheGluLysHisPheProAlaThrIleAspSerPheGlnAspAlaValLysCysLeuSerGluPheAlaCysAsnAlaAlaPheProAspThrSerMetGluAlaIleArgLeuIleArgHisCysAlaLysTyrValSerAspArgProGlnAlaPheLysGluTyrThrSerAspAspMetAsnValAlaProGluAspArgValTrpValArgGlyTrpPheProIleLeuPheGluLeuSerCysIleIleAsnArgCysLysLeuAspValArgThrArgGlyLeuThrValMetPheGluIleMetLysThrTyrGlyHisThrTyrGluLysHisTrpTrpGlnAspLeuPheArgIleValPheArgIlePheAspAsnMetLysLeuProGluGlnGlnThrGluLysAlaGluTrpMetThrThrThrCysAsnHisAlaLeuTyrAlaIleCysAspValPheThrGlnTyrLeuGluValLeuSerAspValLeuLeuAspAspIlePheAlaGlnLeuTyrTrpCysValGlnGlnAspAsnGluGlnLeuAlaArgSerGlyThrAsnCysLeuGluAsnValValIleLeuAsnGlyGluLysPheThrLeuGluIleTrpAspLysThrCysAsnCysThrLeuAspIlePheLysThrThrIleProHisAlaLeuLeuThrTrpArgProAsnSerGlyGluThrAlaProProProProSerProValSerGluLysProLeuAspThrIleSerGlnLysSerValAspIleHisAspSerIleGlnProArgSerValAspAsnArgProGlnAlaProLeuValSerAlaSerAlaValAsnGluGluValSerLysIleLysSerThrAlaLysPheProGluGlnLysLeuPheAlaAlaLeuLeuIleLysCysValValGlnLeuGluLeuIleGlnThrIleAspAsnIleValPhePheProAlaThrSerLysLysGluAspAlaGluAsnLeuAlaAlaAlaGlnArgAspAlaValAspPheAspValArgValAspThrGlnAspGlnGlyMetTyrArgPheLeuThrSerGlnGlnLeuPheLysLeuLeuAspCysLeuLeuGluSerHisArgPheAlaLysAlaPheAsnSerAsnAsnGluGlnArgThrAlaLeuTrpLysAlaGlyPheLysGlyLysSerLysProAsnLeuLeuLysGlnGluThrSerSerLeuAlaCysGlyLeuArgIleLeuPheArgMetTyrMetAspGluSerArgValSerAlaTrpGluGluValGlnGlnArgLeuLeuAsnValCysSerGluAlaLeuSerTyrPheLeuThrLeuThrSerGluSerHisArgGluAlaTrpThrAsnLeuLeuLeuLeuPheLeuThrLysValLeuLysIleSerAspAsnArgPheLysAlaHisAlaSerPheTyrTyrProLeuLeuCysGluIleMetGlnPheAspLeuIleProGluLeuArgAlaValLeuArgArgPhePheLeuArgIleGlyValValPheGlnIleSerGlnProProGluGlnGluLeuGlyIleAsnLysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533559"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3778,
          "referenceAllele": "C",
          "start": 3777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015772",
      "geneNCBI_id": 10565,
      "geneSymbol": "ARFGEF1",
      "hgvs": [
        "XM_005251135.4:c.3697C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251192.1:p.Gln1233Ter",
        "hgvsWellDefined": "XP_005251192.1:p.Gln1233_Gln1843delinsLysAspPheLeuArgProPheGluHisIleMetLysArgAsnArgSerProThrIleArgAspMetValValArgCysIleAlaGlnMetValAsnSerGlnAlaAlaAsnIleArgSerGlyTrpLysAsnIlePheSerValPheHisLeuAlaAlaSerAspGlnAspGluSerIleValGluLeuAlaPheGlnThrThrGlyHisIleValThrLeuValPheGluLysHisPheProAlaThrIleAspSerPheGlnAspAlaValLysCysLeuSerGluPheAlaCysAsnAlaAlaPheProAspThrSerMetGluAlaIleArgLeuIleArgHisCysAlaLysTyrValSerAspArgProGlnAlaPheLysGluTyrThrSerAspAspMetAsnValAlaProGluAspArgValTrpValArgGlyTrpPheProIleLeuPheGluLeuSerCysIleIleAsnArgCysLysLeuAspValArgThrArgGlyLeuThrValMetPheGluIleMetLysThrTyrGlyHisThrTyrGluLysHisTrpTrpGlnAspLeuPheArgIleValPheArgIlePheAspAsnMetLysLeuProGluGlnGlnThrGluLysAlaGluTrpMetThrThrThrCysAsnHisAlaLeuTyrAlaIleCysAspValPheThrGlnTyrLeuGluValLeuSerAspValLeuLeuAspAspIlePheAlaGlnLeuTyrTrpCysValGlnGlnAspAsnGluGlnLeuAlaArgSerGlyThrAsnCysLeuGluAsnValValIleLeuAsnGlyGluLysPheThrLeuGluIleTrpAspLysThrCysAsnCysThrLeuAspIlePheLysThrThrIleProHisAlaLeuLeuThrTrpArgProAsnSerGlyGluThrAlaProProProProSerProAspThrIleSerGlnLysSerValAspIleHisAspSerIleGlnProArgSerValAspAsnArgProGlnAlaProLeuValSerAlaSerAlaValAsnGluGluValSerLysIleLysSerThrAlaLysPheProGluGlnLysLeuPheAlaAlaLeuLeuIleLysCysValValGlnLeuGluLeuIleGlnThrIleAspAsnIleValPhePheProAlaThrSerLysLysGluAspAlaGluAsnLeuAlaAlaAlaGlnArgAspAlaValAspPheAspValArgValAspThrGlnAspGlnGlyMetTyrArgPheLeuThrSerGlnGlnLeuPheLysLeuLeuAspCysLeuLeuGluSerHisArgPheAlaLysAlaPheAsnSerAsnAsnGluGlnArgThrAlaLeuTrpLysAlaGlyPheLysGlyLysSerLysProAsnLeuLeuLysGlnGluThrSerSerLeuAlaCysGlyLeuArgIleLeuPheArgMetTyrMetAspGluSerArgValSerAlaTrpGluGluValGlnGlnArgLeuLeuAsnValCysSerGluAlaLeuSerTyrPheLeuThrLeuThrSerGluSerHisArgGluAlaTrpThrAsnLeuLeuLeuLeuPheLeuThrLysValLeuLysIleSerAspAsnArgPheLysAlaHisAlaSerPheTyrTyrProLeuLeuCysGluIleMetGlnPheAspLeuIleProGluLeuArgAlaValLeuArgArgPhePheLeuArgIleGlyValValPheGlnIleSerGlnProProGluGlnGluLeuGlyIleAsnLysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533560"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3778,
          "referenceAllele": "C",
          "start": 3777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015772",
      "geneNCBI_id": 10565,
      "geneSymbol": "ARFGEF1",
      "hgvs": [
        "XM_005251136.4:c.3697C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005251193.1:p.Gln1233Ter",
        "hgvsWellDefined": "XP_005251193.1:p.Gln1233_Leu1800delinsLysAspPheLeuArgProPheGluHisIleMetLysArgAsnArgSerProThrIleArgAspMetValValArgCysIleAlaGlnMetValAsnSerGlnAlaAlaAsnIleArgSerGlyTrpLysAsnIlePheSerValPheHisLeuAlaAlaSerAspGlnAspGluSerIleValGluLeuAlaPheGlnThrThrGlyHisIleValThrLeuValPheGluLysHisPheProAlaThrIleAspSerPheGlnAspAlaValLysCysLeuSerGluPheAlaCysAsnAlaAlaPheProAspThrSerMetGluAlaIleArgLeuIleArgHisCysAlaLysTyrValSerAspArgProGlnAlaPheLysGluTyrThrSerAspAspMetAsnValAlaProGluAspArgValTrpValArgGlyTrpPheProIleLeuPheGluLeuSerCysIleIleAsnArgCysLysLeuAspValArgThrArgGlyLeuThrValMetPheGluIleMetLysThrTyrGlyHisThrTyrGluLysHisTrpTrpGlnAspLeuPheArgIleValPheArgIlePheAspAsnMetLysLeuProGluGlnGlnThrGluLysAlaGluTrpMetThrThrThrCysAsnHisAlaLeuTyrAlaIleCysAspValPheThrGlnTyrLeuGluValLeuSerAspValLeuLeuAspAspIlePheAlaGlnLeuTyrTrpCysValGlnGlnAspAsnGluGlnLeuAlaArgSerGlyThrAsnCysLeuGluAsnValValIleLeuAsnGlyGluLysPheThrLeuGluIleTrpAspLysThrCysAsnCysThrLeuAspIlePheLysThrThrIleProHisAlaLeuLeuThrTrpArgProAsnSerGlyGluThrAlaProProProProSerProValSerGluLysProLeuAspThrIleSerGlnLysSerValAspIleHisAspSerIleGlnProArgSerValAspAsnArgProGlnAlaProLeuValSerAlaSerAlaValAsnGluGluValSerLysIleLysSerThrAlaLysPheProGluGlnLysLeuPheAlaAlaLeuLeuIleLysCysValValGlnLeuGluLeuIleGlnThrIleAspAsnIleValPhePheProAlaThrSerLysLysGluAspAlaGluAsnLeuAlaAlaAlaGlnArgAspAlaValAspPheAspValArgValAspThrGlnAspGlnGlyMetTyrArgPheLeuThrSerGlnGlnLeuPheLysLeuLeuAspCysLeuLeuGluSerHisArgPheAlaLysAlaPheAsnSerAsnAsnGluGlnArgThrAlaLeuTrpLysAlaGlyPheLysGlyLysSerLysProAsnLeuLeuLysGlnGluThrSerSerLeuAlaCysGlyLeuArgIleLeuPheArgMetTyrMetAspGluSerArgValSerAlaTrpGluGluValGlnGlnArgLeuLeuAsnValCysSerGluAlaLeuSerTyrPheLeuThrLeuThrSerGluSerHisArgGluAlaTrpThrAsnLeuLeuLeuLeuPheLeuThrLysValLeuLysIleSerAspAsnArgThrLysArgThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533561"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499274024",
      "coordinates": [
        {
          "allele": "T",
          "end": 4191,
          "referenceAllele": "C",
          "start": 4190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015772",
      "geneNCBI_id": 10565,
      "geneSymbol": "ARFGEF1",
      "hgvs": [
        "NM_006421.5:c.3697C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006412.2:p.Gln1233Ter",
        "hgvsWellDefined": "NP_006412.2:p.Gln1233_Gln1849delinsLysAspPheLeuArgProPheGluHisIleMetLysArgAsnArgSerProThrIleArgAspMetValValArgCysIleAlaGlnMetValAsnSerGlnAlaAlaAsnIleArgSerGlyTrpLysAsnIlePheSerValPheHisLeuAlaAlaSerAspGlnAspGluSerIleValGluLeuAlaPheGlnThrThrGlyHisIleValThrLeuValPheGluLysHisPheProAlaThrIleAspSerPheGlnAspAlaValLysCysLeuSerGluPheAlaCysAsnAlaAlaPheProAspThrSerMetGluAlaIleArgLeuIleArgHisCysAlaLysTyrValSerAspArgProGlnAlaPheLysGluTyrThrSerAspAspMetAsnValAlaProGluAspArgValTrpValArgGlyTrpPheProIleLeuPheGluLeuSerCysIleIleAsnArgCysLysLeuAspValArgThrArgGlyLeuThrValMetPheGluIleMetLysThrTyrGlyHisThrTyrGluLysHisTrpTrpGlnAspLeuPheArgIleValPheArgIlePheAspAsnMetLysLeuProGluGlnGlnThrGluLysAlaGluTrpMetThrThrThrCysAsnHisAlaLeuTyrAlaIleCysAspValPheThrGlnTyrLeuGluValLeuSerAspValLeuLeuAspAspIlePheAlaGlnLeuTyrTrpCysValGlnGlnAspAsnGluGlnLeuAlaArgSerGlyThrAsnCysLeuGluAsnValValIleLeuAsnGlyGluLysPheThrLeuGluIleTrpAspLysThrCysAsnCysThrLeuAspIlePheLysThrThrIleProHisAlaLeuLeuThrTrpArgProAsnSerGlyGluThrAlaProProProProSerProValSerGluLysProLeuAspThrIleSerGlnLysSerValAspIleHisAspSerIleGlnProArgSerValAspAsnArgProGlnAlaProLeuValSerAlaSerAlaValAsnGluGluValSerLysIleLysSerThrAlaLysPheProGluGlnLysLeuPheAlaAlaLeuLeuIleLysCysValValGlnLeuGluLeuIleGlnThrIleAspAsnIleValPhePheProAlaThrSerLysLysGluAspAlaGluAsnLeuAlaAlaAlaGlnArgAspAlaValAspPheAspValArgValAspThrGlnAspGlnGlyMetTyrArgPheLeuThrSerGlnGlnLeuPheLysLeuLeuAspCysLeuLeuGluSerHisArgPheAlaLysAlaPheAsnSerAsnAsnGluGlnArgThrAlaLeuTrpLysAlaGlyPheLysGlyLysSerLysProAsnLeuLeuLysGlnGluThrSerSerLeuAlaCysGlyLeuArgIleLeuPheArgMetTyrMetAspGluSerArgValSerAlaTrpGluGluValGlnGlnArgLeuLeuAsnValCysSerGluAlaLeuSerTyrPheLeuThrLeuThrSerGluSerHisArgGluAlaTrpThrAsnLeuLeuLeuLeuPheLeuThrLysValLeuLysIleSerAspAsnArgPheLysAlaHisAlaSerPheTyrTyrProLeuLeuCysGluIleMetGlnPheAspLeuIleProGluLeuArgAlaValLeuArgArgPhePheLeuArgIleGlyValValPheGlnIleSerGlnProProGluGlnGluLeuGlyIleAsnLysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667453",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262215.8:c.3697C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006421.5:c.3697C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262215.3:p.Gln1233Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006412.2:p.Gln1233Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}