{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1884736",
  "communityStandardTitle": [
    "NM_012233.3(RAB3GAP1):c.1039C>T (p.Arg347Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=535675[alleleid]",
        "alleleId": 535675,
        "preferredName": "NM_012233.3(RAB3GAP1):c.1039C>T (p.Arg347Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/545410",
        "RCV": [
          "RCV000656360",
          "RCV001855346",
          "RCV002507142"
        ],
        "variationId": 545410
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-135887630-C-T",
        "id": "2-135887630-C-T",
        "variant": "2:135887630 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.135887630C>T?assembly=hg19",
        "id": "chr2:g.135887630C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.135130060C>T?assembly=hg38",
        "id": "chr2:g.135130060C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/532964185",
        "rs": 532964185
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-135887630-C-T?dataset=gnomad_r2_1",
        "id": "2-135887630-C-T",
        "variant": "2:135887630 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-135130060-C-T?dataset=gnomad_r3",
        "id": "2-135130060-C-T",
        "variant": "2:135130060 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-135130060-C-T?dataset=gnomad_r4",
        "id": "2-135130060-C-T",
        "variant": "2:135130060 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 135130060,
          "referenceAllele": "C",
          "start": 135130059
        }
      ],
      "hgvs": [
        "NC_000002.12:g.135130060C>T",
        "CM000664.2:g.135130060C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 135887630,
          "referenceAllele": "C",
          "start": 135887629
        }
      ],
      "hgvs": [
        "NC_000002.11:g.135887630C>T",
        "CM000664.1:g.135887630C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 135604100,
          "referenceAllele": "C",
          "start": 135604099
        }
      ],
      "hgvs": [
        "NC_000002.10:g.135604100C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 82796,
          "referenceAllele": "C",
          "start": 82795
        }
      ],
      "hgvs": [
        "NG_016972.1:g.82796C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003341"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1058,
          "referenceAllele": "C",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000539493.3:c.1039C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444306.2:p.Arg347Ter",
        "hgvsWellDefined": "ENSP00000444306.2:p.Arg347_Pro1024delinsSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaAlaProGlnValCysProGlyArgGlnLeuLeuProGlyAlaGlyIleGluAlaAsnLeuGlnGluLysProThrHisSerArgCysValGluAlaAlaGlyArgAsnProAlaArgIleGlnLeuGlyCysAsnGlyAsnAsnAlaThrAsnAsnProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825900"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 671,
          "referenceAllele": "C",
          "start": 670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000685967.1:c.*496C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508423.1:n.*496C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1385,
          "referenceAllele": "C",
          "start": 1384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000686114.1:n.1385C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830406"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1298,
          "referenceAllele": "C",
          "start": 1297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000687199.1:c.*1107C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510319.1:n.*1107C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830965"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1058,
          "referenceAllele": "C",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000688088.1:n.1058C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831435"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 150,
          "endIntronDirection": "-",
          "endIntronOffset": 37632,
          "referenceAllele": "C",
          "start": 150,
          "startIntronDirection": "-",
          "startIntronOffset": 37633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000688182.1:c.151-37633C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509324.1:n.151-37633C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831483"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1058,
          "referenceAllele": "C",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000689880.1:n.1058C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832421"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 920,
          "referenceAllele": "C",
          "start": 919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000690208.1:c.*717C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510746.1:n.*717C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832586"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1058,
          "referenceAllele": "C",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000690785.1:n.1058C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832874"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 829,
          "referenceAllele": "C",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000691339.1:c.*662C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509953.1:n.*662C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833164"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1262,
          "referenceAllele": "C",
          "start": 1261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000691478.1:c.*1138C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509081.1:n.*1138C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833237"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1058,
          "referenceAllele": "C",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000693554.1:c.1039C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509030.1:p.Arg347Ter",
        "hgvsWellDefined": "ENSP00000509030.1:p.Arg347_Asp789delinsSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysPheLeuGlyAlaPheSerAsnIleIleLeuThrPheGlyValValAlaAlaTyrLeuGluCysCysLeuValLysAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834305"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1055,
          "referenceAllele": "C",
          "start": 1054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000264158.13:c.1039C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264158.8:p.Arg347Ter",
        "hgvsWellDefined": "ENSP00000264158.8:p.Arg347_Phe981delinsSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaGlyAlaPheSerSerAspThrSerPhePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742627",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264158.13:c.1039C>T"
          },
          "RefSeq": {
            "hgvs": "NM_012233.3:c.1039C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264158.8:p.Arg347Ter"
          },
          "RefSeq": {
            "hgvs": "NP_036365.1:p.Arg347Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1082,
          "referenceAllele": "C",
          "start": 1081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000264158.12:c.1039C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264158.7:p.Arg347Ter",
        "hgvsWellDefined": "ENSP00000264158.7:p.Arg347_Phe981delinsSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaGlyAlaPheSerSerAspThrSerPhePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251429"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1049,
          "referenceAllele": "C",
          "start": 1048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000442034.5:c.1039C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411418.1:p.Arg347Ter",
        "hgvsWellDefined": "ENSP00000411418.1:p.Arg347_Phe988delinsSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgLeuThrGluSerSerAspGluAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaGlyAlaPheSerSerAspThrSerPhePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296694"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1108,
          "referenceAllele": "C",
          "start": 1107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000487003.5:n.1108C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325672"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 376,
          "referenceAllele": "C",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000489858.1:n.376C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327828"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 907,
          "referenceAllele": "C",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "ENST00000539493.2:c.907C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444306.1:p.Arg303Ter",
        "hgvsWellDefined": "ENSP00000444306.1:p.Arg303_Val935delinsSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaValLysIleIleAspGlyAspValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361888"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826065080",
      "coordinates": [
        {
          "allele": "T",
          "end": 1082,
          "referenceAllele": "C",
          "start": 1081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "NM_001172435.1:c.1039C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165906.1:p.Arg347Ter",
        "hgvsWellDefined": "NP_001165906.1:p.Arg347_Phe988delinsSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgLeuThrGluSerSerAspGluAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaGlyAlaPheSerSerAspThrSerPhePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015463"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658805588",
      "coordinates": [
        {
          "allele": "T",
          "end": 1082,
          "referenceAllele": "C",
          "start": 1081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "NM_012233.2:c.1039C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036365.1:p.Arg347Ter",
        "hgvsWellDefined": "NP_036365.1:p.Arg347_Phe981delinsSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaGlyAlaPheSerSerAspThrSerPhePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032418"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1082,
          "referenceAllele": "C",
          "start": 1081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "XM_011510822.1:c.1039C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509124.1:p.Arg347Ter",
        "hgvsWellDefined": "XP_011509124.1:p.Arg347_Pro1031delinsSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgLeuThrGluSerSerAspGluAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaAlaProGlnValCysProGlyArgGlnLeuLeuProGlyAlaGlyIleGluAlaAsnLeuGlnGluLysProThrHisSerArgCysValGluAlaAlaGlyArgAsnProAlaArgIleGlnLeuGlyCysAsnGlyAsnAsnAlaThrAsnAsnProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1082,
          "referenceAllele": "C",
          "start": 1081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "XM_011510823.1:c.1039C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509125.1:p.Arg347Ter",
        "hgvsWellDefined": "XP_011509125.1:p.Arg347_Pro1024delinsSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaAlaProGlnValCysProGlyArgGlnLeuLeuProGlyAlaGlyIleGluAlaAsnLeuGlnGluLysProThrHisSerArgCysValGluAlaAlaGlyArgAsnProAlaArgIleGlnLeuGlyCysAsnGlyAsnAsnAlaThrAsnAsnProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078084"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1082,
          "referenceAllele": "C",
          "start": 1081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "XM_011510824.1:c.1039C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509126.1:p.Arg347Ter",
        "hgvsWellDefined": "XP_011509126.1:p.Arg347_Val986delinsSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgLeuThrGluSerSerAspGluAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaValLysIleIleAspGlyAspValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078085"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1082,
          "referenceAllele": "C",
          "start": 1081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "XM_011510825.1:c.1039C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509127.1:p.Arg347Ter",
        "hgvsWellDefined": "XP_011509127.1:p.Arg347_Val979delinsSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaValLysIleIleAspGlyAspValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078086"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1066,
          "referenceAllele": "C",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "XM_011510823.3:c.1039C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509125.1:p.Arg347Ter",
        "hgvsWellDefined": "XP_011509125.1:p.Arg347_Pro1024delinsSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaAlaProGlnValCysProGlyArgGlnLeuLeuProGlyAlaGlyIleGluAlaAsnLeuGlnGluLysProThrHisSerArgCysValGluAlaAlaGlyArgAsnProAlaArgIleGlnLeuGlyCysAsnGlyAsnAsnAlaThrAsnAsnProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541905"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1066,
          "referenceAllele": "C",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "XM_011510825.3:c.1039C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509127.1:p.Arg347Ter",
        "hgvsWellDefined": "XP_011509127.1:p.Arg347_Val979delinsSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaValLysIleIleAspGlyAspValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541906"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1066,
          "referenceAllele": "C",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "XR_001738674.2:n.1066C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589149"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826065080",
      "coordinates": [
        {
          "allele": "T",
          "end": 1055,
          "referenceAllele": "C",
          "start": 1054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "NM_001172435.2:c.1039C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165906.1:p.Arg347Ter",
        "hgvsWellDefined": "NP_001165906.1:p.Arg347_Phe988delinsSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgLeuThrGluSerSerAspGluAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaGlyAlaPheSerSerAspThrSerPhePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678754"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658805588",
      "coordinates": [
        {
          "allele": "T",
          "end": 1055,
          "referenceAllele": "C",
          "start": 1054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017063",
      "geneNCBI_id": 22930,
      "geneSymbol": "RAB3GAP1",
      "hgvs": [
        "NM_012233.3:c.1039C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036365.1:p.Arg347Ter",
        "hgvsWellDefined": "NP_036365.1:p.Arg347_Phe981delinsSerAlaPheGluGluGluGlyLysGluThrAlaAspIleThrHisAlaLeuSerLysLeuThrGluProAlaSerValProIleHisLysLeuSerValSerAsnMetValHisThrAlaLysLysLysIleArgLysHisArgGlyValGluGluSerProLeuAsnAsnAspValLeuAsnThrIleLeuLeuPheLeuPheProAspAlaValSerGluLysProLeuAspGlyThrThrSerThrAspAsnAsnAsnProProSerGluSerGluAspTyrAsnLeuTyrAsnGlnPheLysSerAlaProSerAspSerLeuThrTyrLysLeuAlaLeuCysLeuCysMetIleAsnPheTyrHisGlyGlyLeuLysGlyValAlaHisLeuTrpGlnGluPheValLeuGluMetArgPheArgTrpGluAsnAsnPheLeuIleProGlyLeuAlaSerGlyProProAspLeuArgCysCysLeuLeuHisGlnLysLeuGlnMetLeuAsnCysCysIleGluArgLysLysAlaArgAspGluGlyLysLysThrSerAlaSerAspValThrAsnIleTyrProGlyAspAlaGlyLysAlaGlyAspGlnLeuValProAspAsnLeuLysGluThrAspLysGluLysGlyGluValGlyLysSerTrpAspSerTrpSerAspSerGluGluGluPhePheGluCysLeuSerAspThrGluGluLeuLysGlyAsnGlyGlnGluSerGlyLysLysGlyGlyProLysGluMetAlaAsnLeuArgProGluGlyArgLeuTyrGlnHisGlyLysLeuThrLeuLeuHisAsnGlyGluProLeuTyrIleProValThrGlnGluProAlaProMetThrGluAspLeuLeuGluGluGlnSerGluValLeuAlaLysLeuGlyThrSerAlaGluGlyAlaHisLeuArgAlaArgMetGlnSerAlaCysLeuLeuSerAspMetGluSerPheLysAlaAlaAsnProGlyCysSerLeuGluAspPheValArgTrpTyrSerProArgAspTyrIleGluGluGluValIleAspGluLysGlyAsnValValLeuLysGlyGluLeuSerAlaArgMetLysIleProSerAsnMetTrpValGluAlaTrpGluThrAlaLysProIleProAlaArgArgGlnArgArgLeuPheAspAspThrArgGluAlaGluLysValLeuHisTyrLeuAlaIleGlnLysProAlaAspLeuAlaArgHisLeuLeuProCysValIleHisAlaAlaValLeuLysValLysGluGluGluSerLeuGluAsnIleSerSerValLysLysIleIleLysGlnIleIleSerHisSerSerLysValLeuHisPheProAsnProGluAspLysLysLeuGluGluIleIleHisGlnIleThrAsnValGluAlaLeuIleAlaArgAlaArgSerLeuLysAlaLysPheGlyThrGluLysCysGluGlnGluGluGluLysGluAspLeuGluArgPheValSerCysLeuLeuGluGlnProGluValLeuValThrGlyAlaGlyArgGlyHisAlaGlyArgIleIleHisLysLeuPheValAsnAlaGlnArgAlaAlaAlaMetThrProProGluGluGluLeuLysArgMetGlySerProGluGluArgArgGlnAsnSerValSerAspPheProProProAlaGlyArgGluPheIleLeuArgThrThrValProArgProAlaProTyrSerLysAlaLeuProGlnArgMetTyrSerValLeuThrLysGluAspPheArgLeuAlaGlyAlaPheSerSerAspThrSerPhePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697025",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264158.13:c.1039C>T"
          },
          "RefSeq": {
            "hgvs": "NM_012233.3:c.1039C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264158.8:p.Arg347Ter"
          },
          "RefSeq": {
            "hgvs": "NP_036365.1:p.Arg347Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}