{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA114310",
  "communityStandardTitle": [
    "NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter)"
  ],
  "externalRecords": {
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15510[alleleid]",
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        "preferredName": "NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/471",
        "RCV": [
          "RCV000000500"
        ],
        "variationId": 471
      }
    ],
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      {
        "@id": "http://exac.broadinstitute.org/variant/9-104193160-G-A",
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        "variant": "9:104193160 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.104193160G>A?assembly=hg19",
        "id": "chr9:g.104193160G>A"
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    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.101430878G>A?assembly=hg38",
        "id": "chr9:g.101430878G>A"
      }
    ],
    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/118204428",
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    "gnomAD_2": [
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        "@id": "http://gnomad.broadinstitute.org/variant/9-104193160-G-A?dataset=gnomad_r2_1",
        "id": "9-104193160-G-A",
        "variant": "9:104193160 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-101430878-G-A?dataset=gnomad_r4",
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        "variant": "9:101430878 G / A"
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    {
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        {
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      "referenceGenome": "GRCh38",
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    },
    {
      "chromosome": "9",
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      "referenceGenome": "GRCh37",
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    },
    {
      "chromosome": "9",
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      "referenceGenome": "NCBI36",
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        "maneStatus": "MANE Select",
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      "referenceSequence": "http://reg.genome.network/refseq/RS769770"
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      "referenceSequence": "http://reg.genome.network/refseq/RS769971"
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      "referenceSequence": "http://reg.genome.network/refseq/RS770160"
    },
    {
      "coordinates": [
        {
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS770249"
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS770828"
    },
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      "coordinates": [
        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS771211"
    },
    {
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        {
          "allele": "T",
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270450"
    },
    {
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        {
          "allele": "T",
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403187"
    },
    {
      "@id": "http://reg.genome.network/allele/PA114311",
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        {
          "allele": "T",
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006100"
    },
    {
      "@id": "http://reg.genome.network/allele/PA114311",
      "coordinates": [
        {
          "allele": "T",
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          "start": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000417",
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_000026.2:p.Arg4_Tyr364delinsPheProAlaLeuThrGlnGluGlnLysLysGluLeuSerGluIleAlaGlnSerIleValAlaAsnGlyLysGlyIleLeuAlaAlaAspGluSerValGlyThrMetGlyAsnArgLeuGlnArgIleLysValGluAsnThrGluGluAsnArgArgGlnPheArgGluIleLeuPheSerValAspSerSerIleAsnGlnSerIleGlyGlyValIleLeuPheHisGluThrLeuTyrGlnLysAspSerGlnGlyLysLeuPheArgAsnIleLeuLysGluLysGlyIleValValGlyIleLysLeuAspGlnGlyGlyAlaProLeuAlaGlyThrAsnLysGluThrThrIleGlnGlyLeuAspGlyLeuSerGluArgCysAlaGlnTyrLysLysAspGlyValAspPheGlyLysTrpArgAlaValLeuArgIleAlaAspGlnCysProSerSerLeuAlaIleGlnGluAsnAlaAsnAlaLeuAlaArgTyrAlaSerIleCysGlnGlnAsnGlyLeuValProIleValGluProGluValIleProAspGlyAspHisAspLeuGluHisCysGlnTyrValThrGluLysValLeuAlaAlaValTyrLysAlaLeuAsnAspHisHisValTyrLeuGluGlyThrLeuLeuLysProAsnMetValThrAlaGlyHisAlaCysThrLysLysTyrThrProGluGlnValAlaMetAlaThrValThrAlaLeuHisArgThrValProAlaAlaValProGlyIleCysPheLeuSerGlyGlyMetSerGluGluAspAlaThrLeuAsnLeuAsnAlaIleAsnLeuCysProLeuProLysProTrpLysLeuSerPheSerTyrGlyArgAlaLeuGlnAlaSerAlaLeuAlaAlaTrpGlyGlyLysAlaAlaAsnLysGluAlaThrGlnGluAlaPheMetLysArgAlaMetAlaAsnCysGlnAlaAlaLysGlyGlnTyrValHisThrGlySerSerGlyAlaAlaSerThrGlnSerLeuPheThrAlaCysTyrThrTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510739",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647789.2:c.10C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000035.4:c.10C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497767.1:p.Arg4Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000026.2:p.Arg4Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}