{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA343843568",
  "communityStandardTitle": [
    "NM_004736.4(XPR1):c.526C>T (p.Arg176Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1298024[alleleid]",
        "alleleId": 1298024,
        "preferredName": "NM_004736.4(XPR1):c.526C>T (p.Arg176Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1305430",
        "RCV": [
          "RCV001768637"
        ],
        "variationId": 1305430
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.180775276C>T?assembly=hg19",
        "id": "chr1:g.180775276C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.180806140C>T?assembly=hg38",
        "id": "chr1:g.180806140C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1394325370",
        "rs": 1394325370
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-180775276-C-T?dataset=gnomad_r2_1",
        "id": "1-180775276-C-T",
        "variant": "1:180775276 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-180806140-C-T?dataset=gnomad_r3",
        "id": "1-180806140-C-T",
        "variant": "1:180806140 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-180806140-C-T?dataset=gnomad_r4",
        "id": "1-180806140-C-T",
        "variant": "1:180806140 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 180806140,
          "referenceAllele": "C",
          "start": 180806139
        }
      ],
      "hgvs": [
        "NC_000001.11:g.180806140C>T",
        "CM000663.2:g.180806140C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 180775276,
          "referenceAllele": "C",
          "start": 180775275
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      ],
      "hgvs": [
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        "CM000663.1:g.180775276C>T"
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
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          "end": 179041899,
          "referenceAllele": "C",
          "start": 179041898
        }
      ],
      "hgvs": [
        "NC_000001.9:g.179041899C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 179131,
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      ],
      "hgvs": [
        "NG_050964.1:g.179131C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS616848"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
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      ],
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      "geneNCBI_id": 9213,
      "geneSymbol": "XPR1",
      "hgvs": [
        "ENST00000367590.9:c.526C>T"
      ],
      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750044",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000367590.9:c.526C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004736.4:c.526C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356562.4:p.Arg176Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004727.2:p.Arg176Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 696,
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          "start": 695
        }
      ],
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      "geneNCBI_id": 9213,
      "geneSymbol": "XPR1",
      "hgvs": [
        "ENST00000367589.3:c.526C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356561.3:p.Arg176Ter",
        "hgvsWellDefined": "ENSP00000356561.3:p.Arg176_Thr631delinsValAlaHisValGluValAlaProPheTyrThrCysLysLysIleAsnGlnLeuIleSerGluThrGluAlaValValThrAsnGluLeuGluAspGlyAspArgGlnLysAlaMetLysArgLeuArgValProProLeuGlyAlaAlaGlnProAlaProAlaTrpThrThrPheArgValGlyLeuPheCysGlyIlePheIleValLeuAsnIleThrLeuValLeuAlaAlaValPheLysLeuGluThrAspArgSerIleTrpProLeuIleArgIleTyrArgGlyGlyPheLeuLeuIleGluPheLeuPheLeuLeuGlyIleAsnThrTyrGlyTrpArgGlnAlaGlyValAsnHisValLeuIlePheGluLeuAsnProArgSerAsnLeuSerHisGlnHisLeuPheGluIleAlaGlyPheLeuGlyIleLeuTrpCysLeuSerLeuLeuAlaCysPhePheAlaProIleSerValIleProThrTyrValTyrProLeuAlaLeuTyrGlyPheMetValPhePheLeuIleAsnProThrLysThrPheTyrTyrLysSerArgPheTrpLeuLeuLysLeuLeuPheArgValPheThrAlaProPheHisLysValGlyPheAlaAspPheTrpLeuAlaAspGlnLeuAsnSerLeuSerValIleLeuMetAspLeuGluTyrMetIleCysPheTyrSerLeuGluLeuLysTrpAspGluSerLysGlyLeuLeuProAsnAsnSerGluGluArgGlyHisSerAspThrMetValPhePheTyrLeuTrpIleValPheTyrIleIleSerSerCysTyrThrLeuIleTrpAspLeuLysMetAspTrpGlyLeuPheAspLysAsnAlaGlyGluAsnThrPheLeuArgGluGluIleValTyrProGlnLysAlaTyrTyrTyrCysAlaIleIleGluAspValIleLeuArgPheAlaTrpThrIleGlnIleSerIleThrSerThrThrLeuLeuProHisSerGlyAspIleIleAlaThrValPheAlaProLeuGluValPheArgArgPheValTrpAsnPhePheArgLeuGluAsnGluHisLeuAsnAsnCysGlyGluPheArgAlaValArgAspIleSerValAlaProLeuAsnAlaAspAspGlnThrLeuLeuGluGlnMetMetAspGlnAspAspGlyValArgAsnArgGlnLysAsnArgSerTrpLysTyrAsnGlnSerIleSerLeuArgArgProArgLeuAlaSerGlnSerLysAlaArgAspThrLysValLeuIleGluAspThrAspAspGluAlaAsnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266475"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 724,
          "referenceAllele": "C",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012827",
      "geneNCBI_id": 9213,
      "geneSymbol": "XPR1",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000356562.4:p.Arg176_Thr696delinsValAlaHisValGluValAlaProPheTyrThrCysLysLysIleAsnGlnLeuIleSerGluThrGluAlaValValThrAsnGluLeuGluAspGlyAspArgGlnLysAlaMetLysArgLeuArgValProProLeuGlyAlaAlaGlnProAlaProAlaTrpThrThrPheArgValGlyLeuPheCysGlyIlePheIleValLeuAsnIleThrLeuValLeuAlaAlaValPheLysLeuGluThrAspArgSerIleTrpProLeuIleArgIleTyrArgGlyGlyPheLeuLeuIleGluPheLeuPheLeuLeuGlyIleAsnThrTyrGlyTrpArgGlnAlaGlyValAsnHisValLeuIlePheGluLeuAsnProArgSerAsnLeuSerHisGlnHisLeuPheGluIleAlaGlyPheLeuGlyIleLeuTrpCysLeuSerLeuLeuAlaCysPhePheAlaProIleSerValIleProThrTyrValTyrProLeuAlaLeuTyrGlyPheMetValPhePheLeuIleAsnProThrLysThrPheTyrTyrLysSerArgPheTrpLeuLeuLysLeuLeuPheArgValPheThrAlaProPheHisLysValGlyPheAlaAspPheTrpLeuAlaAspGlnLeuAsnSerLeuSerValIleLeuMetAspLeuGluTyrMetIleCysPheTyrSerLeuGluLeuLysTrpAspGluSerLysGlyLeuLeuProAsnAsnSerGluGluSerGlyIleCysHisLysTyrThrTyrGlyValArgAlaIleValGlnCysIleProAlaTrpLeuArgPheIleGlnCysLeuArgArgTyrArgAspThrLysArgAlaPheProHisLeuValAsnAlaGlyLysTyrSerThrThrPhePheMetValThrPheAlaAlaLeuTyrSerThrHisLysGluArgGlyHisSerAspThrMetValPhePheTyrLeuTrpIleValPheTyrIleIleSerSerCysTyrThrLeuIleTrpAspLeuLysMetAspTrpGlyLeuPheAspLysAsnAlaGlyGluAsnThrPheLeuArgGluGluIleValTyrProGlnLysAlaTyrTyrTyrCysAlaIleIleGluAspValIleLeuArgPheAlaTrpThrIleGlnIleSerIleThrSerThrThrLeuLeuProHisSerGlyAspIleIleAlaThrValPheAlaProLeuGluValPheArgArgPheValTrpAsnPhePheArgLeuGluAsnGluHisLeuAsnAsnCysGlyGluPheArgAlaValArgAspIleSerValAlaProLeuAsnAlaAspAspGlnThrLeuLeuGluGlnMetMetAspGlnAspAspGlyValArgAsnArgGlnLysAsnArgSerTrpLysTyrAsnGlnSerIleSerLeuArgArgProArgLeuAlaSerGlnSerLysAlaArgAspThrLysValLeuIleGluAspThrAspAspGluAlaAsnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266476"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825799952",
      "coordinates": [
        {
          "allele": "T",
          "end": 718,
          "referenceAllele": "C",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012827",
      "geneNCBI_id": 9213,
      "geneSymbol": "XPR1",
      "hgvs": [
        "NM_001135669.1:c.526C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129141.1:p.Arg176Ter",
        "hgvsWellDefined": "NP_001129141.1:p.Arg176_Thr631delinsValAlaHisValGluValAlaProPheTyrThrCysLysLysIleAsnGlnLeuIleSerGluThrGluAlaValValThrAsnGluLeuGluAspGlyAspArgGlnLysAlaMetLysArgLeuArgValProProLeuGlyAlaAlaGlnProAlaProAlaTrpThrThrPheArgValGlyLeuPheCysGlyIlePheIleValLeuAsnIleThrLeuValLeuAlaAlaValPheLysLeuGluThrAspArgSerIleTrpProLeuIleArgIleTyrArgGlyGlyPheLeuLeuIleGluPheLeuPheLeuLeuGlyIleAsnThrTyrGlyTrpArgGlnAlaGlyValAsnHisValLeuIlePheGluLeuAsnProArgSerAsnLeuSerHisGlnHisLeuPheGluIleAlaGlyPheLeuGlyIleLeuTrpCysLeuSerLeuLeuAlaCysPhePheAlaProIleSerValIleProThrTyrValTyrProLeuAlaLeuTyrGlyPheMetValPhePheLeuIleAsnProThrLysThrPheTyrTyrLysSerArgPheTrpLeuLeuLysLeuLeuPheArgValPheThrAlaProPheHisLysValGlyPheAlaAspPheTrpLeuAlaAspGlnLeuAsnSerLeuSerValIleLeuMetAspLeuGluTyrMetIleCysPheTyrSerLeuGluLeuLysTrpAspGluSerLysGlyLeuLeuProAsnAsnSerGluGluArgGlyHisSerAspThrMetValPhePheTyrLeuTrpIleValPheTyrIleIleSerSerCysTyrThrLeuIleTrpAspLeuLysMetAspTrpGlyLeuPheAspLysAsnAlaGlyGluAsnThrPheLeuArgGluGluIleValTyrProGlnLysAlaTyrTyrTyrCysAlaIleIleGluAspValIleLeuArgPheAlaTrpThrIleGlnIleSerIleThrSerThrThrLeuLeuProHisSerGlyAspIleIleAlaThrValPheAlaProLeuGluValPheArgArgPheValTrpAsnPhePheArgLeuGluAsnGluHisLeuAsnAsnCysGlyGluPheArgAlaValArgAspIleSerValAlaProLeuAsnAlaAspAspGlnThrLeuLeuGluGlnMetMetAspGlnAspAspGlyValArgAsnArgGlnLysAsnArgSerTrpLysTyrAsnGlnSerIleSerLeuArgArgProArgLeuAlaSerGlnSerLysAlaArgAspThrLysValLeuIleGluAspThrAspAspGluAlaAsnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012458"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573086320",
      "coordinates": [
        {
          "allele": "T",
          "end": 718,
          "referenceAllele": "C",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012827",
      "geneNCBI_id": 9213,
      "geneSymbol": "XPR1",
      "hgvs": [
        "NM_004736.3:c.526C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004727.2:p.Arg176Ter",
        "hgvsWellDefined": "NP_004727.2:p.Arg176_Thr696delinsValAlaHisValGluValAlaProPheTyrThrCysLysLysIleAsnGlnLeuIleSerGluThrGluAlaValValThrAsnGluLeuGluAspGlyAspArgGlnLysAlaMetLysArgLeuArgValProProLeuGlyAlaAlaGlnProAlaProAlaTrpThrThrPheArgValGlyLeuPheCysGlyIlePheIleValLeuAsnIleThrLeuValLeuAlaAlaValPheLysLeuGluThrAspArgSerIleTrpProLeuIleArgIleTyrArgGlyGlyPheLeuLeuIleGluPheLeuPheLeuLeuGlyIleAsnThrTyrGlyTrpArgGlnAlaGlyValAsnHisValLeuIlePheGluLeuAsnProArgSerAsnLeuSerHisGlnHisLeuPheGluIleAlaGlyPheLeuGlyIleLeuTrpCysLeuSerLeuLeuAlaCysPhePheAlaProIleSerValIleProThrTyrValTyrProLeuAlaLeuTyrGlyPheMetValPhePheLeuIleAsnProThrLysThrPheTyrTyrLysSerArgPheTrpLeuLeuLysLeuLeuPheArgValPheThrAlaProPheHisLysValGlyPheAlaAspPheTrpLeuAlaAspGlnLeuAsnSerLeuSerValIleLeuMetAspLeuGluTyrMetIleCysPheTyrSerLeuGluLeuLysTrpAspGluSerLysGlyLeuLeuProAsnAsnSerGluGluSerGlyIleCysHisLysTyrThrTyrGlyValArgAlaIleValGlnCysIleProAlaTrpLeuArgPheIleGlnCysLeuArgArgTyrArgAspThrLysArgAlaPheProHisLeuValAsnAlaGlyLysTyrSerThrThrPhePheMetValThrPheAlaAlaLeuTyrSerThrHisLysGluArgGlyHisSerAspThrMetValPhePheTyrLeuTrpIleValPheTyrIleIleSerSerCysTyrThrLeuIleTrpAspLeuLysMetAspTrpGlyLeuPheAspLysAsnAlaGlyGluAsnThrPheLeuArgGluGluIleValTyrProGlnLysAlaTyrTyrTyrCysAlaIleIleGluAspValIleLeuArgPheAlaTrpThrIleGlnIleSerIleThrSerThrThrLeuLeuProHisSerGlyAspIleIleAlaThrValPheAlaProLeuGluValPheArgArgPheValTrpAsnPhePheArgLeuGluAsnGluHisLeuAsnAsnCysGlyGluPheArgAlaValArgAspIleSerValAlaProLeuAsnAlaAspAspGlnThrLeuLeuGluGlnMetMetAspGlnAspAspGlyValArgAsnArgGlnLysAsnArgSerTrpLysTyrAsnGlnSerIleSerLeuArgArgProArgLeuAlaSerGlnSerLysAlaArgAspThrLysValLeuIleGluAspThrAspAspGluAlaAsnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029885"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827262247",
      "coordinates": [
        {
          "allele": "T",
          "end": 718,
          "referenceAllele": "C",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012827",
      "geneNCBI_id": 9213,
      "geneSymbol": "XPR1",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "NP_001315591.1:p.Arg176Ter",
        "hgvsWellDefined": "NP_001315591.1:p.Arg176_Leu503delinsValAlaHisValGluValAlaProPheTyrThrCysLysLysIleAsnGlnLeuIleSerGluThrGluAlaValValThrAsnGluLeuGluAspGlyAspArgGlnLysAlaMetLysArgLeuArgValProProLeuGlyAlaAlaGlnProAlaProAlaTrpThrThrPheArgValGlyLeuPheCysGlyIlePheIleValLeuAsnIleThrLeuValLeuAlaAlaValPheLysLeuGluThrAspArgSerIleTrpProLeuIleArgIleTyrArgGlyGlyPheLeuLeuIleGluPheLeuPheLeuLeuGlyIleAsnThrTyrGlyTrpArgGlnAlaGlyValAsnHisValLeuIlePheGluLeuAsnProArgSerAsnLeuSerHisGlnHisLeuPheGluIleAlaGlyPheLeuGlyIleLeuTrpCysLeuSerLeuLeuAlaCysPhePheAlaProIleSerValIleProThrTyrValTyrProLeuAlaLeuTyrGlyPheMetValPhePheLeuIleAsnProThrLysThrPheTyrTyrLysSerArgPheTrpLeuLeuLysLeuLeuPheArgValPheThrAlaProPheHisLysValGlyPheAlaAspPheTrpLeuAlaAspGlnLeuAsnSerLeuSerValIleLeuMetAspLeuGluTyrMetIleCysPheTyrSerLeuGluLeuLysTrpAspGluSerLysGlyLeuLeuProAsnAsnSerGluGluSerGlyIleCysHisLysTyrThrTyrGlyValArgAlaIleValGlnCysIleProAlaTrpLeuArgPheIleGlnCysLeuArgArgTyrArgAspThrLysArgAlaPheProHisLeuValAsnAlaGlyLysTyrSerThrThrPhePheMetValThrPheAlaAlaLeuTyrSerThrHisLysGlyIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516133"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 718,
          "referenceAllele": "C",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012827",
      "geneNCBI_id": 9213,
      "geneSymbol": "XPR1",
      "hgvs": [
        "NR_137330.1:n.718C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS529073"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825799952",
      "coordinates": [
        {
          "allele": "T",
          "end": 706,
          "referenceAllele": "C",
          "start": 705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012827",
      "geneNCBI_id": 9213,
      "geneSymbol": "XPR1",
      "hgvs": [
        "NM_001135669.2:c.526C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129141.1:p.Arg176Ter",
        "hgvsWellDefined": "NP_001129141.1:p.Arg176_Thr631delinsValAlaHisValGluValAlaProPheTyrThrCysLysLysIleAsnGlnLeuIleSerGluThrGluAlaValValThrAsnGluLeuGluAspGlyAspArgGlnLysAlaMetLysArgLeuArgValProProLeuGlyAlaAlaGlnProAlaProAlaTrpThrThrPheArgValGlyLeuPheCysGlyIlePheIleValLeuAsnIleThrLeuValLeuAlaAlaValPheLysLeuGluThrAspArgSerIleTrpProLeuIleArgIleTyrArgGlyGlyPheLeuLeuIleGluPheLeuPheLeuLeuGlyIleAsnThrTyrGlyTrpArgGlnAlaGlyValAsnHisValLeuIlePheGluLeuAsnProArgSerAsnLeuSerHisGlnHisLeuPheGluIleAlaGlyPheLeuGlyIleLeuTrpCysLeuSerLeuLeuAlaCysPhePheAlaProIleSerValIleProThrTyrValTyrProLeuAlaLeuTyrGlyPheMetValPhePheLeuIleAsnProThrLysThrPheTyrTyrLysSerArgPheTrpLeuLeuLysLeuLeuPheArgValPheThrAlaProPheHisLysValGlyPheAlaAspPheTrpLeuAlaAspGlnLeuAsnSerLeuSerValIleLeuMetAspLeuGluTyrMetIleCysPheTyrSerLeuGluLeuLysTrpAspGluSerLysGlyLeuLeuProAsnAsnSerGluGluArgGlyHisSerAspThrMetValPhePheTyrLeuTrpIleValPheTyrIleIleSerSerCysTyrThrLeuIleTrpAspLeuLysMetAspTrpGlyLeuPheAspLysAsnAlaGlyGluAsnThrPheLeuArgGluGluIleValTyrProGlnLysAlaTyrTyrTyrCysAlaIleIleGluAspValIleLeuArgPheAlaTrpThrIleGlnIleSerIleThrSerThrThrLeuLeuProHisSerGlyAspIleIleAlaThrValPheAlaProLeuGluValPheArgArgPheValTrpAsnPhePheArgLeuGluAsnGluHisLeuAsnAsnCysGlyGluPheArgAlaValArgAspIleSerValAlaProLeuAsnAlaAspAspGlnThrLeuLeuGluGlnMetMetAspGlnAspAspGlyValArgAsnArgGlnLysAsnArgSerTrpLysTyrAsnGlnSerIleSerLeuArgArgProArgLeuAlaSerGlnSerLysAlaArgAspThrLysValLeuIleGluAspThrAspAspGluAlaAsnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677323"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827262247",
      "coordinates": [
        {
          "allele": "T",
          "end": 706,
          "referenceAllele": "C",
          "start": 705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012827",
      "geneNCBI_id": 9213,
      "geneSymbol": "XPR1",
      "hgvs": [
        "NM_001328662.2:c.526C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001315591.1:p.Arg176Ter",
        "hgvsWellDefined": "NP_001315591.1:p.Arg176_Leu503delinsValAlaHisValGluValAlaProPheTyrThrCysLysLysIleAsnGlnLeuIleSerGluThrGluAlaValValThrAsnGluLeuGluAspGlyAspArgGlnLysAlaMetLysArgLeuArgValProProLeuGlyAlaAlaGlnProAlaProAlaTrpThrThrPheArgValGlyLeuPheCysGlyIlePheIleValLeuAsnIleThrLeuValLeuAlaAlaValPheLysLeuGluThrAspArgSerIleTrpProLeuIleArgIleTyrArgGlyGlyPheLeuLeuIleGluPheLeuPheLeuLeuGlyIleAsnThrTyrGlyTrpArgGlnAlaGlyValAsnHisValLeuIlePheGluLeuAsnProArgSerAsnLeuSerHisGlnHisLeuPheGluIleAlaGlyPheLeuGlyIleLeuTrpCysLeuSerLeuLeuAlaCysPhePheAlaProIleSerValIleProThrTyrValTyrProLeuAlaLeuTyrGlyPheMetValPhePheLeuIleAsnProThrLysThrPheTyrTyrLysSerArgPheTrpLeuLeuLysLeuLeuPheArgValPheThrAlaProPheHisLysValGlyPheAlaAspPheTrpLeuAlaAspGlnLeuAsnSerLeuSerValIleLeuMetAspLeuGluTyrMetIleCysPheTyrSerLeuGluLeuLysTrpAspGluSerLysGlyLeuLeuProAsnAsnSerGluGluSerGlyIleCysHisLysTyrThrTyrGlyValArgAlaIleValGlnCysIleProAlaTrpLeuArgPheIleGlnCysLeuArgArgTyrArgAspThrLysArgAlaPheProHisLeuValAsnAlaGlyLysTyrSerThrThrPhePheMetValThrPheAlaAlaLeuTyrSerThrHisLysGlyIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686504"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573086320",
      "coordinates": [
        {
          "allele": "T",
          "end": 706,
          "referenceAllele": "C",
          "start": 705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012827",
      "geneNCBI_id": 9213,
      "geneSymbol": "XPR1",
      "hgvs": [
        "NM_004736.4:c.526C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004727.2:p.Arg176Ter",
        "hgvsWellDefined": "NP_004727.2:p.Arg176_Thr696delinsValAlaHisValGluValAlaProPheTyrThrCysLysLysIleAsnGlnLeuIleSerGluThrGluAlaValValThrAsnGluLeuGluAspGlyAspArgGlnLysAlaMetLysArgLeuArgValProProLeuGlyAlaAlaGlnProAlaProAlaTrpThrThrPheArgValGlyLeuPheCysGlyIlePheIleValLeuAsnIleThrLeuValLeuAlaAlaValPheLysLeuGluThrAspArgSerIleTrpProLeuIleArgIleTyrArgGlyGlyPheLeuLeuIleGluPheLeuPheLeuLeuGlyIleAsnThrTyrGlyTrpArgGlnAlaGlyValAsnHisValLeuIlePheGluLeuAsnProArgSerAsnLeuSerHisGlnHisLeuPheGluIleAlaGlyPheLeuGlyIleLeuTrpCysLeuSerLeuLeuAlaCysPhePheAlaProIleSerValIleProThrTyrValTyrProLeuAlaLeuTyrGlyPheMetValPhePheLeuIleAsnProThrLysThrPheTyrTyrLysSerArgPheTrpLeuLeuLysLeuLeuPheArgValPheThrAlaProPheHisLysValGlyPheAlaAspPheTrpLeuAlaAspGlnLeuAsnSerLeuSerValIleLeuMetAspLeuGluTyrMetIleCysPheTyrSerLeuGluLeuLysTrpAspGluSerLysGlyLeuLeuProAsnAsnSerGluGluSerGlyIleCysHisLysTyrThrTyrGlyValArgAlaIleValGlnCysIleProAlaTrpLeuArgPheIleGlnCysLeuArgArgTyrArgAspThrLysArgAlaPheProHisLeuValAsnAlaGlyLysTyrSerThrThrPhePheMetValThrPheAlaAlaLeuTyrSerThrHisLysGluArgGlyHisSerAspThrMetValPhePheTyrLeuTrpIleValPheTyrIleIleSerSerCysTyrThrLeuIleTrpAspLeuLysMetAspTrpGlyLeuPheAspLysAsnAlaGlyGluAsnThrPheLeuArgGluGluIleValTyrProGlnLysAlaTyrTyrTyrCysAlaIleIleGluAspValIleLeuArgPheAlaTrpThrIleGlnIleSerIleThrSerThrThrLeuLeuProHisSerGlyAspIleIleAlaThrValPheAlaProLeuGluValPheArgArgPheValTrpAsnPhePheArgLeuGluAsnGluHisLeuAsnAsnCysGlyGluPheArgAlaValArgAspIleSerValAlaProLeuAsnAlaAspAspGlnThrLeuLeuGluGlnMetMetAspGlnAspAspGlyValArgAsnArgGlnLysAsnArgSerTrpLysTyrAsnGlnSerIleSerLeuArgArgProArgLeuAlaSerGlnSerLysAlaArgAspThrLysValLeuIleGluAspThrAspAspGluAlaAsnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696223",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367590.9:c.526C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004736.4:c.526C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356562.4:p.Arg176Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004727.2:p.Arg176Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 706,
          "referenceAllele": "C",
          "start": 705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012827",
      "geneNCBI_id": 9213,
      "geneSymbol": "XPR1",
      "hgvs": [
        "NR_137330.2:n.706C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703977"
    }
  ],
  "type": "nucleotide"
}