{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA400203279",
  "communityStandardTitle": [
    "NM_000088.4(COL1A1):c.3061G>T (p.Glu1021Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=489950[alleleid]",
        "alleleId": 489950,
        "preferredName": "NM_000088.4(COL1A1):c.3061G>T (p.Glu1021Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/498526",
        "RCV": [
          "RCV000598016",
          "RCV001215501"
        ],
        "variationId": 498526
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.48266141C>A?assembly=hg19",
        "id": "chr17:g.48266141C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.50188780C>A?assembly=hg38",
        "id": "chr17:g.50188780C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/139593707",
        "rs": 139593707
      }
    ]
  },
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    {
      "chromosome": "17",
      "coordinates": [
        {
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          "end": 50188780,
          "referenceAllele": "C",
          "start": 50188779
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      ],
      "hgvs": [
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        "CM000679.2:g.50188780C>A"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 48266141,
          "referenceAllele": "C",
          "start": 48266140
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      ],
      "hgvs": [
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        "CM000679.1:g.48266141C>A"
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
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          "end": 45621140,
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          "start": 45621139
        }
      ],
      "hgvs": [
        "NC_000017.9:g.45621140C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
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          "end": 17860,
          "referenceAllele": "G",
          "start": 17859
        }
      ],
      "hgvs": [
        "NG_007400.1:g.17860G>T",
        "LRG_1:g.17860G>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS000567"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
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          "end": 3179,
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          "start": 3178
        }
      ],
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      "geneNCBI_id": 1277,
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        "ENST00000225964.10:c.3061G>T"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740684",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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          "RefSeq": {
            "hgvs": "NM_000088.4:c.3061G>T"
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        }
      }
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5,
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          "start": 4
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      ],
      "gene": "http://reg.genome.network/gene/GN002197",
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      "hgvs": [
        "ENST00000511732.1:n.5G>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS341936"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658804254",
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        {
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        "NM_000088.3:c.3061G>T",
        "LRG_1t1:c.3061G>T"
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006152"
    },
    {
      "coordinates": [
        {
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061555"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061556"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      "referenceSequence": "http://reg.genome.network/refseq/RS091468"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534587"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534588"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658804254",
      "coordinates": [
        {
          "allele": "T",
          "end": 3179,
          "referenceAllele": "G",
          "start": 3178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "NM_000088.4:c.3061G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000079.2:p.Glu1021Ter",
        "hgvsWellDefined": "NP_000079.2:p.Glu1021_Leu1464delinsGlySerProGlyArgAspGlySerProGlyAlaLysGlyAspArgGlyGluThrGlyProAlaGlyProProGlyAlaProGlyAlaProGlyAlaProGlyProValGlyProAlaGlyLysSerGlyAspArgGlyGluThrGlyProAlaGlyProAlaGlyProValGlyProValGlyAlaArgGlyProAlaGlyProGlnGlyProArgGlyAspLysGlyGluThrGlyGluGlnGlyAspArgGlyIleLysGlyHisArgGlyPheSerGlyLeuGlnGlyProProGlyProProGlySerProGlyGluGlnGlyProSerGlyAlaSerGlyProAlaGlyProArgGlyProProGlySerAlaGlyAlaProGlyLysAspGlyLeuAsnGlyLeuProGlyProIleGlyProProGlyProArgGlyArgThrGlyAspAlaGlyProValGlyProProGlyProProGlyProProGlyProProGlyProProSerAlaGlyPheAspPheSerPheLeuProGlnProProGlnGluLysAlaHisAspGlyGlyArgTyrTyrArgAlaAspAspAlaAsnValValArgAspArgAspLeuGluValAspThrThrLeuLysSerLeuSerGlnGlnIleGluAsnIleArgSerProGluGlySerArgLysAsnProAlaArgThrCysArgAspLeuLysMetCysHisSerAspTrpLysSerGlyGluTyrTrpIleAspProAsnGlnGlyCysAsnLeuAspAlaIleLysValPheCysAsnMetGluThrGlyGluThrCysValTyrProThrGlnProSerValAlaGlnLysAsnTrpTyrIleSerLysAsnProLysAspLysArgHisValTrpPheGlyGluSerMetThrAspGlyPheGlnPheGluTyrGlyGlyGlnGlySerAspProAlaAspValAlaIleGlnLeuThrPheLeuArgLeuMetSerThrGluAlaSerGlnAsnIleThrTyrHisCysLysAsnSerValAlaTyrMetAspGlnGlnThrGlyAsnLeuLysLysAlaLeuLeuLeuGlnGlySerAsnGluIleGluIleArgAlaGluGlyAsnSerArgPheThrTyrSerValThrValAspGlyCysThrSerHisThrGlyAlaTrpGlyLysThrValIleGluTyrLysThrThrLysThrSerArgLeuProIleIleAspValAlaProLeuAspValGlyAlaProAspGlnGluPheGlyPheAspValGlyProValCysPheLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674695",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000225964.10:c.3061G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000088.4:c.3061G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000225964.6:p.Glu1021Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000079.2:p.Glu1021Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}