{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA118433",
  "communityStandardTitle": [
    "NM_005450.6(NOG):c.386T>A (p.Leu129Ter)"
  ],
  "externalRecords": {
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21739[alleleid]",
        "alleleId": 21739,
        "preferredName": "NM_005450.6(NOG):c.386T>A (p.Leu129Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6700",
        "RCV": [
          "RCV000007090"
        ],
        "variationId": 6700
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.54671970T>A?assembly=hg19",
        "id": "chr17:g.54671970T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.56594609T>A?assembly=hg38",
        "id": "chr17:g.56594609T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894613",
        "rs": 104894613
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 56594609,
          "referenceAllele": "T",
          "start": 56594608
        }
      ],
      "hgvs": [
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        "CM000679.2:g.56594609T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 54671970,
          "referenceAllele": "T",
          "start": 54671969
        }
      ],
      "hgvs": [
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        "CM000679.1:g.54671970T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 52026969,
          "referenceAllele": "T",
          "start": 52026968
        }
      ],
      "hgvs": [
        "NC_000017.9:g.52026969T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5911,
          "referenceAllele": "T",
          "start": 5910
        }
      ],
      "hgvs": [
        "NG_011958.1:g.5911T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002070"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 911,
          "referenceAllele": "T",
          "start": 910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007866",
      "geneNCBI_id": 9241,
      "geneSymbol": "NOG",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000328181.4:p.Leu129_Cys232delinsAlaGlnGlyLysLysGlnArgLeuSerLysLysLeuArgArgLysLeuGlnMetTrpLeuTrpSerGlnThrPheCysProValLeuTyrAlaTrpAsnAspLeuGlySerArgPheTrpProArgTyrValLysValGlySerCysPheSerLysArgSerCysSerValProGluGlyMetValCysLysProSerLysSerValHisLeuThrValLeuArgTrpArgCysGlnArgArgGlyGlyGlnArgCysGlyTrpIleProIleGlnTyrProIleIleSerGluCysLysCysSerCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747258",
      "MANE": {
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        "maneStatus": "MANE Select",
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          },
          "RefSeq": {
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          }
        },
        "protein": {
          "Ensembl": {
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          },
          "RefSeq": {
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          }
        }
      }
    },
    {
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          "end": 911,
          "referenceAllele": "T",
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      "gene": "http://reg.genome.network/gene/GN007866",
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      "geneSymbol": "NOG",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000328181.4:p.Leu129_Cys232delinsAlaGlnGlyLysLysGlnArgLeuSerLysLysLeuArgArgLysLeuGlnMetTrpLeuTrpSerGlnThrPheCysProValLeuTyrAlaTrpAsnAspLeuGlySerArgPheTrpProArgTyrValLysValGlySerCysPheSerLysArgSerCysSerValProGluGlyMetValCysLysProSerLysSerValHisLeuThrValLeuArgTrpArgCysGlnArgArgGlyGlyGlnArgCysGlyTrpIleProIleGlnTyrProIleIleSerGluCysLysCysSerCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259618"
    },
    {
      "@id": "http://reg.genome.network/allele/PA118434",
      "coordinates": [
        {
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          "end": 911,
          "referenceAllele": "T",
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      "gene": "http://reg.genome.network/gene/GN007866",
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      "geneSymbol": "NOG",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_005441.1:p.Leu129_Cys232delinsAlaGlnGlyLysLysGlnArgLeuSerLysLysLeuArgArgLysLeuGlnMetTrpLeuTrpSerGlnThrPheCysProValLeuTyrAlaTrpAsnAspLeuGlySerArgPheTrpProArgTyrValLysValGlySerCysPheSerLysArgSerCysSerValProGluGlyMetValCysLysProSerLysSerValHisLeuThrValLeuArgTrpArgCysGlnArgArgGlyGlyGlnArgCysGlyTrpIleProIleGlnTyrProIleIleSerGluCysLysCysSerCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030546"
    },
    {
      "@id": "http://reg.genome.network/allele/PA118434",
      "coordinates": [
        {
          "allele": "A",
          "end": 911,
          "referenceAllele": "T",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN007866",
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      "geneSymbol": "NOG",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_005441.1:p.Leu129Ter",
        "hgvsWellDefined": "NP_005441.1:p.Leu129_Cys232delinsAlaGlnGlyLysLysGlnArgLeuSerLysLysLeuArgArgLysLeuGlnMetTrpLeuTrpSerGlnThrPheCysProValLeuTyrAlaTrpAsnAspLeuGlySerArgPheTrpProArgTyrValLysValGlySerCysPheSerLysArgSerCysSerValProGluGlyMetValCysLysProSerLysSerValHisLeuThrValLeuArgTrpArgCysGlnArgArgGlyGlyGlnArgCysGlyTrpIleProIleGlnTyrProIleIleSerGluCysLysCysSerCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696424",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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          },
          "RefSeq": {
            "hgvs": "NM_005450.6:c.386T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000328181.4:p.Leu129Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005441.1:p.Leu129Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}