{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA121896",
  "communityStandardTitle": [
    "NM_000587.4(C7):c.1458T>A (p.Cys486Ter)"
  ],
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27150[alleleid]",
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        "preferredName": "NM_000587.4(C7):c.1458T>A (p.Cys486Ter)"
      }
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12111",
        "RCV": [
          "RCV000012894"
        ],
        "variationId": 12111
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.40958332T>A?assembly=hg19",
        "id": "chr5:g.40958332T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.40958230T>A?assembly=hg38",
        "id": "chr5:g.40958230T>A"
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    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121964922",
        "rs": 121964922
      }
    ]
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      "chromosome": "5",
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      "referenceGenome": "GRCh38",
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    {
      "chromosome": "5",
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      "referenceGenome": "GRCh37",
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    },
    {
      "chromosome": "5",
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      "referenceGenome": "NCBI36",
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    },
    {
      "coordinates": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS001903"
    }
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907795"
    },
    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907898"
    },
    {
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS913026"
    },
    {
      "coordinates": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS913028"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2348,
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          "start": 2347
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      "gene": "http://reg.genome.network/gene/GN001346",
      "geneNCBI_id": 730,
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      "hgvs": [
        "ENST00000706667.1:n.2348T>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS913029"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2186,
          "referenceAllele": "T",
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      "gene": "http://reg.genome.network/gene/GN001346",
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      "hgvs": [
        "ENST00000706668.1:n.2186T>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS913030"
    },
    {
      "coordinates": [
        {
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        }
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745839",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000313164.10:c.1458T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000587.4:c.1458T>A"
          }
        },
        "protein": {
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            "hgvs": "NP_000578.2:p.Cys486Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
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        }
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000322061.9:p.Cys486_Gln843delinsGluGlnGlyValLeuValGlyAsnGlnAlaGlyGlyValAspGlyGlyTrpSerCysTrpSerSerTrpSerProCysValGlnGlyLysLysThrArgSerArgGluCysAsnAsnProProProSerGlyGlyGlyArgSerCysValGlyGluThrThrGluSerThrGlnCysGluAspGluGluLeuGluHisLeuArgLeuLeuGluProHisCysPheProLeuSerLeuValProThrGluPheCysProSerProProAlaLeuLysAspGlyPheValGlnAspGluGlyThrMetPheProValGlyLysAsnValValTyrThrCysAsnGluGlyTyrSerLeuIleGlyAsnProValAlaArgCysGlyGluAspLeuArgTrpLeuValGlyGluMetHisCysGlnLysIleAlaCysValLeuProValLeuMetAspGlyIleGlnSerHisProGlnLysProPheTyrThrValGlyGluLysValThrValSerCysSerGlyGlyMetSerLeuGluGlyProSerAlaPheLeuCysGlySerSerLeuLysTrpSerProGluMetLysAsnAlaArgCysValGlnLysGluAsnProLeuThrGlnAlaValProLysCysGlnArgTrpGluLysLeuGlnAsnSerArgCysValCysLysMetProTyrGluCysGlyProSerLeuAspValCysAlaGlnAspGluArgSerLysArgIleLeuProLeuThrValCysLysMetHisValLeuHisCysGlnGlyArgAsnTyrThrLeuThrGlyArgAspSerCysThrLeuProAlaSerAlaGluLysAlaCysGlyAlaCysProLeuTrpGlyLysCysAspAlaGluSerSerLysCysValCysArgGluAlaSerGluCysGluGluGluGlyPheSerIleCysValGluValAsnGlyLysGluGlnThrMetSerGluCysGluAlaGlyAlaLeuArgCysArgGlyGlnSerIleSerValThrSerIleArgProCysAlaAlaGluThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256777"
    },
    {
      "@id": "http://reg.genome.network/allele/PA121898",
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        {
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      "gene": "http://reg.genome.network/gene/GN001346",
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        "hgvsWellDefined": "NP_000578.2:p.Cys486_Gln843delinsGluGlnGlyValLeuValGlyAsnGlnAlaGlyGlyValAspGlyGlyTrpSerCysTrpSerSerTrpSerProCysValGlnGlyLysLysThrArgSerArgGluCysAsnAsnProProProSerGlyGlyGlyArgSerCysValGlyGluThrThrGluSerThrGlnCysGluAspGluGluLeuGluHisLeuArgLeuLeuGluProHisCysPheProLeuSerLeuValProThrGluPheCysProSerProProAlaLeuLysAspGlyPheValGlnAspGluGlyThrMetPheProValGlyLysAsnValValTyrThrCysAsnGluGlyTyrSerLeuIleGlyAsnProValAlaArgCysGlyGluAspLeuArgTrpLeuValGlyGluMetHisCysGlnLysIleAlaCysValLeuProValLeuMetAspGlyIleGlnSerHisProGlnLysProPheTyrThrValGlyGluLysValThrValSerCysSerGlyGlyMetSerLeuGluGlyProSerAlaPheLeuCysGlySerSerLeuLysTrpSerProGluMetLysAsnAlaArgCysValGlnLysGluAsnProLeuThrGlnAlaValProLysCysGlnArgTrpGluLysLeuGlnAsnSerArgCysValCysLysMetProTyrGluCysGlyProSerLeuAspValCysAlaGlnAspGluArgSerLysArgIleLeuProLeuThrValCysLysMetHisValLeuHisCysGlnGlyArgAsnTyrThrLeuThrGlyArgAspSerCysThrLeuProAlaSerAlaGluLysAlaCysGlyAlaCysProLeuTrpGlyLysCysAspAlaGluSerSerLysCysValCysArgGluAlaSerGluCysGluGluGluGlyPheSerIleCysValGluValAsnGlyLysGluGlnThrMetSerGluCysGluAlaGlyAlaLeuArgCysArgGlyGlnSerIleSerValThrSerIleArgProCysAlaAlaGluThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006641"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1596,
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          "start": 1595
        }
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      "proteinEffect": {
        "hgvs": "XP_011512424.1:p.Cys486Ter",
        "hgvsWellDefined": "XP_011512424.1:p.Cys486_Met791delinsGluGlnGlyValLeuValGlyAsnGlnAlaGlyGlyValAspGlyGlyTrpSerCysTrpSerSerTrpSerProCysValGlnGlyLysLysThrArgSerArgGluCysAsnAsnProProProSerGlyGlyGlyArgSerCysValGlyGluThrThrGluSerThrGlnCysGluAspGluGluLeuGluHisLeuArgLeuLeuGluProHisCysPheProLeuSerLeuValProThrGluPheCysProSerProProAlaLeuLysAspGlyPheValGlnAspGluGlyThrMetPheProValGlyLysAsnValValTyrThrCysAsnGluGlyTyrSerLeuIleGlyAsnProValAlaArgCysGlyGluAspLeuArgTrpLeuValGlyGluMetHisCysGlnLysIleAlaCysValLeuProValLeuMetAspGlyIleGlnSerHisProGlnLysProPheTyrThrValGlyGluLysValThrValSerCysSerGlyGlyMetSerLeuGluGlyProSerAlaPheLeuCysGlySerSerLeuLysTrpSerProGluMetLysAsnAlaArgCysValGlnLysGluAsnProLeuThrGlnAlaValProLysCysGlnArgTrpGluLysLeuGlnAsnSerArgCysValCysLysMetProTyrGluCysGlyProSerLeuAspValCysAlaGlnAspGluArgSerLysArgIleLeuProLeuThrValCysLysMetHisValLeuHisCysGlnGlyArgAsnTyrThrLeuThrGlyArgAspSerCysThrLeuProAlaSerAlaGluLysAlaCysGlyAlaCysProLeuTrpGlyLysCysAspAspGluLysAlaGlyThrGluMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA121898",
      "coordinates": [
        {
          "allele": "A",
          "end": 1817,
          "referenceAllele": "T",
          "start": 1816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001346",
      "geneNCBI_id": 730,
      "geneSymbol": "C7",
      "hgvs": [
        "NM_000587.3:c.1458T>A"
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      "proteinEffect": {
        "hgvs": "NP_000578.2:p.Cys486Ter",
        "hgvsWellDefined": "NP_000578.2:p.Cys486_Gln843delinsGluGlnGlyValLeuValGlyAsnGlnAlaGlyGlyValAspGlyGlyTrpSerCysTrpSerSerTrpSerProCysValGlnGlyLysLysThrArgSerArgGluCysAsnAsnProProProSerGlyGlyGlyArgSerCysValGlyGluThrThrGluSerThrGlnCysGluAspGluGluLeuGluHisLeuArgLeuLeuGluProHisCysPheProLeuSerLeuValProThrGluPheCysProSerProProAlaLeuLysAspGlyPheValGlnAspGluGlyThrMetPheProValGlyLysAsnValValTyrThrCysAsnGluGlyTyrSerLeuIleGlyAsnProValAlaArgCysGlyGluAspLeuArgTrpLeuValGlyGluMetHisCysGlnLysIleAlaCysValLeuProValLeuMetAspGlyIleGlnSerHisProGlnLysProPheTyrThrValGlyGluLysValThrValSerCysSerGlyGlyMetSerLeuGluGlyProSerAlaPheLeuCysGlySerSerLeuLysTrpSerProGluMetLysAsnAlaArgCysValGlnLysGluAsnProLeuThrGlnAlaValProLysCysGlnArgTrpGluLysLeuGlnAsnSerArgCysValCysLysMetProTyrGluCysGlyProSerLeuAspValCysAlaGlnAspGluArgSerLysArgIleLeuProLeuThrValCysLysMetHisValLeuHisCysGlnGlyArgAsnTyrThrLeuThrGlyArgAspSerCysThrLeuProAlaSerAlaGluLysAlaCysGlyAlaCysProLeuTrpGlyLysCysAspAlaGluSerSerLysCysValCysArgGluAlaSerGluCysGluGluGluGlyPheSerIleCysValGluValAsnGlyLysGluGlnThrMetSerGluCysGluAlaGlyAlaLeuArgCysArgGlyGlnSerIleSerValThrSerIleArgProCysAlaAlaGluThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510819"
    },
    {
      "@id": "http://reg.genome.network/allele/PA121898",
      "coordinates": [
        {
          "allele": "A",
          "end": 1572,
          "referenceAllele": "T",
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      ],
      "gene": "http://reg.genome.network/gene/GN001346",
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_000578.2:p.Cys486Ter",
        "hgvsWellDefined": "NP_000578.2:p.Cys486_Gln843delinsGluGlnGlyValLeuValGlyAsnGlnAlaGlyGlyValAspGlyGlyTrpSerCysTrpSerSerTrpSerProCysValGlnGlyLysLysThrArgSerArgGluCysAsnAsnProProProSerGlyGlyGlyArgSerCysValGlyGluThrThrGluSerThrGlnCysGluAspGluGluLeuGluHisLeuArgLeuLeuGluProHisCysPheProLeuSerLeuValProThrGluPheCysProSerProProAlaLeuLysAspGlyPheValGlnAspGluGlyThrMetPheProValGlyLysAsnValValTyrThrCysAsnGluGlyTyrSerLeuIleGlyAsnProValAlaArgCysGlyGluAspLeuArgTrpLeuValGlyGluMetHisCysGlnLysIleAlaCysValLeuProValLeuMetAspGlyIleGlnSerHisProGlnLysProPheTyrThrValGlyGluLysValThrValSerCysSerGlyGlyMetSerLeuGluGlyProSerAlaPheLeuCysGlySerSerLeuLysTrpSerProGluMetLysAsnAlaArgCysValGlnLysGluAsnProLeuThrGlnAlaValProLysCysGlnArgTrpGluLysLeuGlnAsnSerArgCysValCysLysMetProTyrGluCysGlyProSerLeuAspValCysAlaGlnAspGluArgSerLysArgIleLeuProLeuThrValCysLysMetHisValLeuHisCysGlnGlyArgAsnTyrThrLeuThrGlyArgAspSerCysThrLeuProAlaSerAlaGluLysAlaCysGlyAlaCysProLeuTrpGlyLysCysAspAlaGluSerSerLysCysValCysArgGluAlaSerGluCysGluGluGluGlyPheSerIleCysValGluValAsnGlyLysGluGlnThrMetSerGluCysGluAlaGlyAlaLeuArgCysArgGlyGlnSerIleSerValThrSerIleArgProCysAlaAlaGluThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674900",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313164.10:c.1458T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000587.4:c.1458T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322061.9:p.Cys486Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000578.2:p.Cys486Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}