{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA249528",
  "communityStandardTitle": [
    "NM_006494.4(ERF):c.547C>T (p.Arg183Ter)"
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  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=70565[alleleid]",
        "alleleId": 70565,
        "preferredName": "NM_006494.4(ERF):c.547C>T (p.Arg183Ter)"
      }
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/55923",
        "RCV": [
          "RCV000049336",
          "RCV000534904",
          "RCV000763434"
        ],
        "variationId": 55923
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.42753717G>A?assembly=hg19",
        "id": "chr19:g.42753717G>A"
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    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.42249565G>A?assembly=hg38",
        "id": "chr19:g.42249565G>A"
      }
    ],
    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/587777006",
        "rs": 587777006
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    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-42249565-G-A?dataset=gnomad_r4",
        "id": "19-42249565-G-A",
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      }
    ]
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      "chromosome": "19",
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        {
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        "NC_000019.10:g.42249565G>A",
        "CM000681.2:g.42249565G>A"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
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        {
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      "referenceGenome": "NCBI36",
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    },
    {
      "coordinates": [
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      "MANE": {
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            "hgvs": "NM_006494.4:c.547C>T"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295762"
    },
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      "coordinates": [
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          "allele": "T",
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          "endIntronDirection": "+",
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS394745"
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      "referenceSequence": "http://reg.genome.network/refseq/RS395082"
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    {
      "@id": "http://reg.genome.network/allele/PA2826860813",
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      "referenceSequence": "http://reg.genome.network/refseq/RS025059"
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      "@id": "http://reg.genome.network/allele/PA2826935896",
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      "referenceSequence": "http://reg.genome.network/refseq/RS026326"
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    {
      "@id": "http://reg.genome.network/allele/PA2826943299",
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          "allele": "T",
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      "referenceSequence": "http://reg.genome.network/refseq/RS026446"
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    {
      "@id": "http://reg.genome.network/allele/PA249529",
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS031504"
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    {
      "coordinates": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093714"
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    {
      "coordinates": [
        {
          "allele": "T",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093715"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 765,
          "referenceAllele": "C",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003444",
      "geneNCBI_id": 2077,
      "geneSymbol": "ERF",
      "hgvs": [
        "XM_017026468.1:c.322C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881957.1:p.Arg108Ter",
        "hgvsWellDefined": "XP_016881957.1:p.Arg108_Ser473delinsGlySerValSerAspCysSerAspGlyThrSerGluLeuGluGluProLeuGlyGluAspProArgAlaArgProProGlyProProAspLeuGlyAlaPheArgGlyProProLeuAlaArgLeuProHisAspProGlyValPheArgValTyrProArgProArgGlyGlyProGluProLeuSerProPheProValSerProLeuAlaGlyProGlySerLeuLeuProProGlnLeuSerProAlaLeuProMetThrProThrHisLeuAlaTyrThrProSerProThrLeuSerProMetTyrProSerGlyGlyGlyGlyProSerGlySerGlyGlyGlySerHisPheSerPheSerProGluAspMetLysArgTyrLeuGlnAlaHisThrGlnSerValTyrAsnTyrHisLeuSerProArgAlaPheLeuHisTyrProGlyLeuValValProGlnProGlnArgProAspLysCysProLeuProProMetAlaProGluThrProProValProSerSerAlaSerSerSerSerSerSerSerSerSerProPheLysPheLysLeuGlnProProProLeuGlyArgArgGlnArgAlaAlaGlyGluLysAlaValAlaGlyAlaAspLysSerGlyGlySerAlaGlyGlyLeuAlaGluGlyAlaGlyAlaLeuAlaProProProProProProGlnIleLysValGluProIleSerGluGlyGluSerGluGluValGluValThrAspIleSerAspGluAspGluGluAspGlyGluValPheLysThrProArgAlaProProAlaProProLysProGluProGlyGluAlaProGlyAlaSerGlnCysMetProLeuLysLeuArgPheLysArgArgTrpSerGluAspCysArgLeuGluGlyGlyGlyGlyProAlaGlyGlyPheGluAspGluGlyGluAspLysLysValArgGlyGluGlyProGlyGluAlaGlyGlyProLeuThrProArgArgValSerSerAspLeuGlnHisAlaThrAlaGlnLeuSerLeuGluHisArgAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576613"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 572,
          "referenceAllele": "C",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003444",
      "geneNCBI_id": 2077,
      "geneSymbol": "ERF",
      "hgvs": [
        "XM_017026469.1:c.322C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881958.1:p.Arg108Ter",
        "hgvsWellDefined": "XP_016881958.1:p.Arg108_Ser473delinsGlySerValSerAspCysSerAspGlyThrSerGluLeuGluGluProLeuGlyGluAspProArgAlaArgProProGlyProProAspLeuGlyAlaPheArgGlyProProLeuAlaArgLeuProHisAspProGlyValPheArgValTyrProArgProArgGlyGlyProGluProLeuSerProPheProValSerProLeuAlaGlyProGlySerLeuLeuProProGlnLeuSerProAlaLeuProMetThrProThrHisLeuAlaTyrThrProSerProThrLeuSerProMetTyrProSerGlyGlyGlyGlyProSerGlySerGlyGlyGlySerHisPheSerPheSerProGluAspMetLysArgTyrLeuGlnAlaHisThrGlnSerValTyrAsnTyrHisLeuSerProArgAlaPheLeuHisTyrProGlyLeuValValProGlnProGlnArgProAspLysCysProLeuProProMetAlaProGluThrProProValProSerSerAlaSerSerSerSerSerSerSerSerSerProPheLysPheLysLeuGlnProProProLeuGlyArgArgGlnArgAlaAlaGlyGluLysAlaValAlaGlyAlaAspLysSerGlyGlySerAlaGlyGlyLeuAlaGluGlyAlaGlyAlaLeuAlaProProProProProProGlnIleLysValGluProIleSerGluGlyGluSerGluGluValGluValThrAspIleSerAspGluAspGluGluAspGlyGluValPheLysThrProArgAlaProProAlaProProLysProGluProGlyGluAlaProGlyAlaSerGlnCysMetProLeuLysLeuArgPheLysArgArgTrpSerGluAspCysArgLeuGluGlyGlyGlyGlyProAlaGlyGlyPheGluAspGluGlyGluAspLysLysValArgGlyGluGlyProGlyGluAlaGlyGlyProLeuThrProArgArgValSerSerAspLeuGlnHisAlaThrAlaGlnLeuSerLeuGluHisArgAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA249529",
      "coordinates": [
        {
          "allele": "T",
          "end": 676,
          "referenceAllele": "C",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003444",
      "geneNCBI_id": 2077,
      "geneSymbol": "ERF",
      "hgvs": [
        "NM_006494.4:c.547C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006485.2:p.Arg183Ter",
        "hgvsWellDefined": "NP_006485.2:p.Arg183_Ser548delinsGlySerValSerAspCysSerAspGlyThrSerGluLeuGluGluProLeuGlyGluAspProArgAlaArgProProGlyProProAspLeuGlyAlaPheArgGlyProProLeuAlaArgLeuProHisAspProGlyValPheArgValTyrProArgProArgGlyGlyProGluProLeuSerProPheProValSerProLeuAlaGlyProGlySerLeuLeuProProGlnLeuSerProAlaLeuProMetThrProThrHisLeuAlaTyrThrProSerProThrLeuSerProMetTyrProSerGlyGlyGlyGlyProSerGlySerGlyGlyGlySerHisPheSerPheSerProGluAspMetLysArgTyrLeuGlnAlaHisThrGlnSerValTyrAsnTyrHisLeuSerProArgAlaPheLeuHisTyrProGlyLeuValValProGlnProGlnArgProAspLysCysProLeuProProMetAlaProGluThrProProValProSerSerAlaSerSerSerSerSerSerSerSerSerProPheLysPheLysLeuGlnProProProLeuGlyArgArgGlnArgAlaAlaGlyGluLysAlaValAlaGlyAlaAspLysSerGlyGlySerAlaGlyGlyLeuAlaGluGlyAlaGlyAlaLeuAlaProProProProProProGlnIleLysValGluProIleSerGluGlyGluSerGluGluValGluValThrAspIleSerAspGluAspGluGluAspGlyGluValPheLysThrProArgAlaProProAlaProProLysProGluProGlyGluAlaProGlyAlaSerGlnCysMetProLeuLysLeuArgPheLysArgArgTrpSerGluAspCysArgLeuGluGlyGlyGlyGlyProAlaGlyGlyPheGluAspGluGlyGluAspLysLysValArgGlyGluGlyProGlyGluAlaGlyGlyProLeuThrProArgArgValSerSerAspLeuGlnHisAlaThrAlaGlnLeuSerLeuGluHisArgAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667485",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000222329.9:c.547C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006494.4:c.547C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000222329.3:p.Arg183Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006485.2:p.Arg183Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826935896",
      "coordinates": [
        {
          "allele": "T",
          "end": 583,
          "referenceAllele": "C",
          "start": 582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003444",
      "geneNCBI_id": 2077,
      "geneSymbol": "ERF",
      "hgvs": [
        "NM_001308402.2:c.322C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295331.1:p.Arg108Ter",
        "hgvsWellDefined": "NP_001295331.1:p.Arg108_Ser473delinsGlySerValSerAspCysSerAspGlyThrSerGluLeuGluGluProLeuGlyGluAspProArgAlaArgProProGlyProProAspLeuGlyAlaPheArgGlyProProLeuAlaArgLeuProHisAspProGlyValPheArgValTyrProArgProArgGlyGlyProGluProLeuSerProPheProValSerProLeuAlaGlyProGlySerLeuLeuProProGlnLeuSerProAlaLeuProMetThrProThrHisLeuAlaTyrThrProSerProThrLeuSerProMetTyrProSerGlyGlyGlyGlyProSerGlySerGlyGlyGlySerHisPheSerPheSerProGluAspMetLysArgTyrLeuGlnAlaHisThrGlnSerValTyrAsnTyrHisLeuSerProArgAlaPheLeuHisTyrProGlyLeuValValProGlnProGlnArgProAspLysCysProLeuProProMetAlaProGluThrProProValProSerSerAlaSerSerSerSerSerSerSerSerSerProPheLysPheLysLeuGlnProProProLeuGlyArgArgGlnArgAlaAlaGlyGluLysAlaValAlaGlyAlaAspLysSerGlyGlySerAlaGlyGlyLeuAlaGluGlyAlaGlyAlaLeuAlaProProProProProProGlnIleLysValGluProIleSerGluGlyGluSerGluGluValGluValThrAspIleSerAspGluAspGluGluAspGlyGluValPheLysThrProArgAlaProProAlaProProLysProGluProGlyGluAlaProGlyAlaSerGlnCysMetProLeuLysLeuArgPheLysArgArgTrpSerGluAspCysArgLeuGluGlyGlyGlyGlyProAlaGlyGlyPheGluAspGluGlyGluAspLysLysValArgGlyGluGlyProGlyGluAlaGlyGlyProLeuThrProArgArgValSerSerAspLeuGlnHisAlaThrAlaGlnLeuSerLeuGluHisArgAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684023"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826943299",
      "coordinates": [
        {
          "allele": "T",
          "end": 550,
          "referenceAllele": "C",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003444",
      "geneNCBI_id": 2077,
      "geneSymbol": "ERF",
      "hgvs": [
        "NM_001312656.2:c.322C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001299585.1:p.Arg108Ter",
        "hgvsWellDefined": "NP_001299585.1:p.Arg108_Ser473delinsGlySerValSerAspCysSerAspGlyThrSerGluLeuGluGluProLeuGlyGluAspProArgAlaArgProProGlyProProAspLeuGlyAlaPheArgGlyProProLeuAlaArgLeuProHisAspProGlyValPheArgValTyrProArgProArgGlyGlyProGluProLeuSerProPheProValSerProLeuAlaGlyProGlySerLeuLeuProProGlnLeuSerProAlaLeuProMetThrProThrHisLeuAlaTyrThrProSerProThrLeuSerProMetTyrProSerGlyGlyGlyGlyProSerGlySerGlyGlyGlySerHisPheSerPheSerProGluAspMetLysArgTyrLeuGlnAlaHisThrGlnSerValTyrAsnTyrHisLeuSerProArgAlaPheLeuHisTyrProGlyLeuValValProGlnProGlnArgProAspLysCysProLeuProProMetAlaProGluThrProProValProSerSerAlaSerSerSerSerSerSerSerSerSerProPheLysPheLysLeuGlnProProProLeuGlyArgArgGlnArgAlaAlaGlyGluLysAlaValAlaGlyAlaAspLysSerGlyGlySerAlaGlyGlyLeuAlaGluGlyAlaGlyAlaLeuAlaProProProProProProGlnIleLysValGluProIleSerGluGlyGluSerGluGluValGluValThrAspIleSerAspGluAspGluGluAspGlyGluValPheLysThrProArgAlaProProAlaProProLysProGluProGlyGluAlaProGlyAlaSerGlnCysMetProLeuLysLeuArgPheLysArgArgTrpSerGluAspCysArgLeuGluGlyGlyGlyGlyProAlaGlyGlyPheGluAspGluGlyGluAspLysLysValArgGlyGluGlyProGlyGluAlaGlyGlyProLeuThrProArgArgValSerSerAspLeuGlnHisAlaThrAlaGlnLeuSerLeuGluHisArgAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684088"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826860813",
      "coordinates": [
        {
          "allele": "T",
          "end": 624,
          "referenceAllele": "C",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003444",
      "geneNCBI_id": 2077,
      "geneSymbol": "ERF",
      "hgvs": [
        "NM_001301035.2:c.322C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287964.1:p.Arg108Ter",
        "hgvsWellDefined": "NP_001287964.1:p.Arg108_Ser473delinsGlySerValSerAspCysSerAspGlyThrSerGluLeuGluGluProLeuGlyGluAspProArgAlaArgProProGlyProProAspLeuGlyAlaPheArgGlyProProLeuAlaArgLeuProHisAspProGlyValPheArgValTyrProArgProArgGlyGlyProGluProLeuSerProPheProValSerProLeuAlaGlyProGlySerLeuLeuProProGlnLeuSerProAlaLeuProMetThrProThrHisLeuAlaTyrThrProSerProThrLeuSerProMetTyrProSerGlyGlyGlyGlyProSerGlySerGlyGlyGlySerHisPheSerPheSerProGluAspMetLysArgTyrLeuGlnAlaHisThrGlnSerValTyrAsnTyrHisLeuSerProArgAlaPheLeuHisTyrProGlyLeuValValProGlnProGlnArgProAspLysCysProLeuProProMetAlaProGluThrProProValProSerSerAlaSerSerSerSerSerSerSerSerSerProPheLysPheLysLeuGlnProProProLeuGlyArgArgGlnArgAlaAlaGlyGluLysAlaValAlaGlyAlaAspLysSerGlyGlySerAlaGlyGlyLeuAlaGluGlyAlaGlyAlaLeuAlaProProProProProProGlnIleLysValGluProIleSerGluGlyGluSerGluGluValGluValThrAspIleSerAspGluAspGluGluAspGlyGluValPheLysThrProArgAlaProProAlaProProLysProGluProGlyGluAlaProGlyAlaSerGlnCysMetProLeuLysLeuArgPheLysArgArgTrpSerGluAspCysArgLeuGluGlyGlyGlyGlyProAlaGlyGlyPheGluAspGluGlyGluAspLysLysValArgGlyGluGlyProGlyGluAlaGlyGlyProLeuThrProArgArgValSerSerAspLeuGlnHisAlaThrAlaGlnLeuSerLeuGluHisArgAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716932"
    }
  ],
  "type": "nucleotide"
}