{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA400861763",
  "communityStandardTitle": [
    "NM_000891.3(KCNJ2):c.715G>T (p.Glu239Ter)"
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        "preferredName": "NM_000891.3(KCNJ2):c.715G>T (p.Glu239Ter)"
      }
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/463523",
        "RCV": [
          "RCV001389262"
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        "variationId": 463523
      }
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    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.68171895G>T?assembly=hg19",
        "id": "chr17:g.68171895G>T"
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    "MyVariantInfo_hg38": [
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        "@id": "http://myvariant.info/v1/variant/chr17:g.70175754G>T?assembly=hg38",
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/1555603974",
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        "@id": "http://gnomad.broadinstitute.org/variant/17-70175754-G-T?dataset=gnomad_r4",
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        "variant": "17:70175754 G / T"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
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      "referenceGenome": "NCBI36",
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    },
    {
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    }
  ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249266"
    },
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      "coordinates": [
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      ],
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      "geneNCBI_id": 3759,
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      "hgvs": [
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        "hgvsWellDefined": "ENSP00000441848.1:p.Glu239_Ile427delinsGlyGluTyrIleProLeuAspGlnIleAspIleAsnValGlyPheAspSerGlyIleAspArgIlePheLeuValSerProIleThrIleValHisGluIleAspGluAspSerProLeuTyrAspLeuSerLysGlnAspIleAspAsnAlaAspPheGluIleValValIleLeuGluGlyMetValGluAlaThrAlaMetThrThrGlnCysArgSerSerTyrLeuAlaAsnGluIleLeuTrpGlyHisArgTyrGluProValLeuPheGluGluLysHisTyrTyrLysValAspTyrSerArgPheHisLysThrTyrGluValProAsnThrProLeuCysSerAlaArgAspLeuAlaGluLysLysTyrIleLeuSerAsnAlaAsnSerPheCysTyrGluAsnGluValAlaLeuThrSerLysGluGluAspAspSerGluAsnGlyValProGluSerThrSerThrAspThrProProAspIleAspLeuHisAsnGlnAlaSerValProLeuGluProArgProLeuArgArgGluSerGluIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359613"
    },
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      "@id": "http://reg.genome.network/allele/PA658676097",
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      ],
      "gene": "http://reg.genome.network/gene/GN006263",
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      "geneSymbol": "KCNJ2",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006918"
    },
    {
      "coordinates": [
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      "geneNCBI_id": 3759,
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      "hgvs": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091900"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658676097",
      "coordinates": [
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      ],
      "gene": "http://reg.genome.network/gene/GN006263",
      "geneNCBI_id": 3759,
      "geneSymbol": "KCNJ2",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_000882.1:p.Glu239Ter",
        "hgvsWellDefined": "NP_000882.1:p.Glu239_Ile427delinsGlyGluTyrIleProLeuAspGlnIleAspIleAsnValGlyPheAspSerGlyIleAspArgIlePheLeuValSerProIleThrIleValHisGluIleAspGluAspSerProLeuTyrAspLeuSerLysGlnAspIleAspAsnAlaAspPheGluIleValValIleLeuGluGlyMetValGluAlaThrAlaMetThrThrGlnCysArgSerSerTyrLeuAlaAsnGluIleLeuTrpGlyHisArgTyrGluProValLeuPheGluGluLysHisTyrTyrLysValAspTyrSerArgPheHisLysThrTyrGluValProAsnThrProLeuCysSerAlaArgAspLeuAlaGluLysLysTyrIleLeuSerAsnAlaAsnSerPheCysTyrGluAsnGluValAlaLeuThrSerLysGluGluAspAspSerGluAsnGlyValProGluSerThrSerThrAspThrProProAspIleAspLeuHisAsnGlnAlaSerValProLeuGluProArgProLeuArgArgGluSerGluIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674977",
      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000243457.4:c.715G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000891.3:c.715G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000243457.2:p.Glu239Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000882.1:p.Glu239Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}