{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA374266252",
  "communityStandardTitle": [
    "NM_000035.4(ALDOB):c.34C>T (p.Gln12Ter)"
  ],
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1366612[alleleid]",
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        "preferredName": "NM_000035.4(ALDOB):c.34C>T (p.Gln12Ter)"
      }
    ],
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1454003",
        "RCV": [
          "RCV001941654"
        ],
        "variationId": 1454003
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.104193136G>A?assembly=hg19",
        "id": "chr9:g.104193136G>A"
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    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.101430854G>A?assembly=hg38",
        "id": "chr9:g.101430854G>A"
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    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/190631679",
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    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-101430854-G-A?dataset=gnomad_r4",
        "id": "9-101430854-G-A",
        "variant": "9:101430854 G / A"
      }
    ]
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    {
      "chromosome": "9",
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      "referenceGenome": "GRCh37",
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    },
    {
      "chromosome": "9",
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    },
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      "coordinates": [
        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS769770"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS769971"
    },
    {
      "coordinates": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770160"
    },
    {
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        {
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS770249"
    },
    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS770828"
    },
    {
      "coordinates": [
        {
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS771211"
    },
    {
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        {
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          "referenceAllele": "C",
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270450"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      ],
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        "hgvsWellDefined": "ENSP00000481363.1:p.Gln12_Leu316delinsLysLysGluLeuSerGluIleAlaGlnSerIleValAlaAsnGlyLysGlyIleLeuAlaAlaAspGluSerValGlyThrMetGlyAsnArgLeuGlnArgIleLysValGluAsnThrGluGluAsnArgArgGlnPheArgGluIleLeuPheSerValAspSerSerIleAsnGlnSerIleGlyGlyValIleLeuPheHisGluThrLeuTyrGlnLysAspSerGlnGlyLysLeuPheArgAsnIleLeuLysGluLysGlyIleValValGlyIleLysLeuAspGlnGlyGlyAlaProLeuAlaGlyThrAsnLysGluThrThrIleGlnGlyLeuAspGlyLeuSerGluArgCysAlaGlnTyrLysLysAspGlyValAspPheGlyLysTrpArgAlaValLeuArgIleAlaAspGlnCysProSerSerLeuAlaIleGlnGluAsnAlaAsnAlaLeuAlaArgTyrAlaSerIleCysGlnGlnAsnGlyLeuValProIleValGluProGluValIleProAspGlyAspHisAspLeuGluHisCysGlnTyrValThrGluLysValLeuAlaAlaValTyrLysAlaLeuAsnAspHisHisValTyrLeuGluGlyThrLeuLeuLysProAsnMetValThrAlaGlyHisAlaCysThrLysLysTyrThrProGluGlnValAlaMetAlaThrValThrAlaLeuHisArgThrValProAlaAlaValProGlyIleCysPheLeuSerGlyGlyMetSerGluGluAspAlaThrLeuAsnLeuAsnAlaIleAsnLeuCysProLeuProLysProTrpLysLeuSerPheSerTrpValAlaArgLeuGlnThrArgArgGlnProArgArgLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403187"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573159867",
      "coordinates": [
        {
          "allele": "T",
          "end": 116,
          "referenceAllele": "C",
          "start": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000417",
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      "hgvs": [
        "NM_000035.3:c.34C>T"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006100"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573159867",
      "coordinates": [
        {
          "allele": "T",
          "end": 110,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN000417",
      "geneNCBI_id": 229,
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      "hgvs": [
        "NM_000035.4:c.34C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000026.2:p.Gln12Ter",
        "hgvsWellDefined": "NP_000026.2:p.Gln12_Tyr364delinsLysLysGluLeuSerGluIleAlaGlnSerIleValAlaAsnGlyLysGlyIleLeuAlaAlaAspGluSerValGlyThrMetGlyAsnArgLeuGlnArgIleLysValGluAsnThrGluGluAsnArgArgGlnPheArgGluIleLeuPheSerValAspSerSerIleAsnGlnSerIleGlyGlyValIleLeuPheHisGluThrLeuTyrGlnLysAspSerGlnGlyLysLeuPheArgAsnIleLeuLysGluLysGlyIleValValGlyIleLysLeuAspGlnGlyGlyAlaProLeuAlaGlyThrAsnLysGluThrThrIleGlnGlyLeuAspGlyLeuSerGluArgCysAlaGlnTyrLysLysAspGlyValAspPheGlyLysTrpArgAlaValLeuArgIleAlaAspGlnCysProSerSerLeuAlaIleGlnGluAsnAlaAsnAlaLeuAlaArgTyrAlaSerIleCysGlnGlnAsnGlyLeuValProIleValGluProGluValIleProAspGlyAspHisAspLeuGluHisCysGlnTyrValThrGluLysValLeuAlaAlaValTyrLysAlaLeuAsnAspHisHisValTyrLeuGluGlyThrLeuLeuLysProAsnMetValThrAlaGlyHisAlaCysThrLysLysTyrThrProGluGlnValAlaMetAlaThrValThrAlaLeuHisArgThrValProAlaAlaValProGlyIleCysPheLeuSerGlyGlyMetSerGluGluAspAlaThrLeuAsnLeuAsnAlaIleAsnLeuCysProLeuProLysProTrpLysLeuSerPheSerTyrGlyArgAlaLeuGlnAlaSerAlaLeuAlaAlaTrpGlyGlyLysAlaAlaAsnLysGluAlaThrGlnGluAlaPheMetLysArgAlaMetAlaAsnCysGlnAlaAlaLysGlyGlnTyrValHisThrGlySerSerGlyAlaAlaSerThrGlnSerLeuPheThrAlaCysTyrThrTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510739",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647789.2:c.34C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000035.4:c.34C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497767.1:p.Gln12Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000026.2:p.Gln12Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}