{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA006314",
  "communityStandardTitle": [
    "NM_000090.4(COL3A1):c.3325C>T (p.Arg1109Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4998323",
        "active": true,
        "id": "COSM4998323"
      }
    ],
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=107174[alleleid]",
        "alleleId": 107174,
        "preferredName": "NM_000090.4(COL3A1):c.3325C>T (p.Arg1109Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/101427",
        "RCV": [
          "RCV000087665",
          "RCV001189408",
          "RCV001269682"
        ],
        "variationId": 101427
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.189872295C>T?assembly=hg19",
        "id": "chr2:g.189872295C>T"
      }
    ],
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      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.189007569C>T?assembly=hg38",
        "id": "chr2:g.189007569C>T"
      }
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/112371422",
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
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        {
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      "hgvs": [
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
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          "end": 38197,
          "referenceAllele": "C",
          "start": 38196
        }
      ],
      "hgvs": [
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        "LRG_3:g.38197C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS000569"
    }
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    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3343,
          "referenceAllele": "C",
          "start": 3342
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      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
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      "referenceSequence": "http://reg.genome.network/refseq/RS914086"
    },
    {
      "coordinates": [
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      "geneNCBI_id": 1281,
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745127",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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            "hgvs": "ENST00000304636.9:c.3325C>T"
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          "RefSeq": {
            "hgvs": "NM_000090.4:c.3325C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000304408.4:p.Arg1109Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000081.2:p.Arg1109Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3495,
          "referenceAllele": "C",
          "start": 3494
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "ENSP00000304408.3:p.Arg1109Ter",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247303"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2631,
          "endIntronDirection": "-",
          "endIntronOffset": 484,
          "referenceAllele": "C",
          "start": 2631,
          "startIntronDirection": "-",
          "startIntronOffset": 485
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      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
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      "hgvs": [
        "ENST00000317840.9:c.2528-485C>T"
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      "proteinEffect": {
        "hgvs": "ENSP00000315243.6:n.2528-485C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS247250"
    },
    {
      "@id": "http://reg.genome.network/allele/PA286387",
      "coordinates": [
        {
          "allele": "T",
          "end": 3442,
          "referenceAllele": "C",
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        }
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_000081.1:p.Arg1109Ter",
        "hgvsWellDefined": "NP_000081.1:p.Arg1109_Leu1466delinsGlyPheProGlyAsnProGlyAlaProGlySerProGlyProAlaGlyGlnGlnGlyAlaIleGlySerProGlyProAlaGlyProArgGlyProValGlyProSerGlyProProGlyLysAspGlyThrSerGlyHisProGlyProIleGlyProProGlyProArgGlyAsnArgGlyGluArgGlySerGluGlySerProGlyHisProGlyGlnProGlyProProGlyProProGlyAlaProGlyProCysCysGlyGlyValGlyAlaAlaAlaIleAlaGlyIleGlyGlyGluLysAlaGlyGlyPheAlaProTyrTyrGlyAspGluProMetAspPheLysIleAsnThrAspGluIleMetThrSerLeuLysSerValAsnGlyGlnIleGluSerLeuIleSerProAspGlySerArgLysAsnProAlaArgAsnCysArgAspLeuLysPheCysHisProGluLeuLysSerGlyGluTyrTrpValAspProAsnGlnGlyCysLysLeuAspAlaIleLysValPheCysAsnMetGluThrGlyGluThrCysIleSerAlaAsnProLeuAsnValProArgLysHisTrpTrpThrAspSerSerAlaGluLysLysHisValTrpPheGlyGluSerMetAspGlyGlyPheGlnPheSerTyrGlyAsnProGluLeuProGluAspValLeuAspValGlnLeuAlaPheLeuArgLeuLeuSerSerArgAlaSerGlnAsnIleThrTyrHisCysLysAsnSerIleAlaTyrMetAspGlnAlaSerGlyAsnValLysLysAlaLeuLysLeuMetGlySerAsnGluGlyGluPheLysAlaGluGlyAsnSerLysPheThrTyrThrValLeuGluAspGlyCysThrLysHisThrGlyGluTrpSerLysThrValPheGluTyrArgThrArgLysAlaValArgLeuProIleValAspIleAlaProTyrAspIleGlyGlyProAspGlnGluPheGlyValAspValGlyProValCysPheLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006154"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573060794",
      "coordinates": [
        {
          "allele": "T",
          "end": 3442,
          "referenceAllele": "C",
          "start": 3441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002201",
      "geneNCBI_id": 1281,
      "geneSymbol": "COL3A1",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_000081.2:p.Arg1109Ter",
        "hgvsWellDefined": "NP_000081.2:p.Arg1109_Leu1466delinsGlyPheProGlyAsnProGlyAlaProGlySerProGlyProAlaGlyGlnGlnGlyAlaIleGlySerProGlyProAlaGlyProArgGlyProValGlyProSerGlyProProGlyLysAspGlyThrSerGlyHisProGlyProIleGlyProProGlyProArgGlyAsnArgGlyGluArgGlySerGluGlySerProGlyHisProGlyGlnProGlyProProGlyProProGlyAlaProGlyProCysCysGlyGlyValGlyAlaAlaAlaIleAlaGlyIleGlyGlyGluLysAlaGlyGlyPheAlaProTyrTyrGlyAspGluProMetAspPheLysIleAsnThrAspGluIleMetThrSerLeuLysSerValAsnGlyGlnIleGluSerLeuIleSerProAspGlySerArgLysAsnProAlaArgAsnCysArgAspLeuLysPheCysHisProGluLeuLysSerGlyGluTyrTrpValAspProAsnGlnGlyCysLysLeuAspAlaIleLysValPheCysAsnMetGluThrGlyGluThrCysIleSerAlaAsnProLeuAsnValProArgLysHisTrpTrpThrAspSerSerAlaGluLysLysHisValTrpPheGlyGluSerMetAspGlyGlyPheGlnPheSerTyrGlyAsnProGluLeuProGluAspValLeuAspValHisLeuAlaPheLeuArgLeuLeuSerSerArgAlaSerGlnAsnIleThrTyrHisCysLysAsnSerIleAlaTyrMetAspGlnAlaSerGlyAsnValLysLysAlaLeuLysLeuMetGlySerAsnGluGlyGluPheLysAlaGluGlyAsnSerLysPheThrTyrThrValLeuGluAspGlyCysThrLysHisThrGlyGluTrpSerLysThrValPheGluTyrArgThrArgLysAlaValArgLeuProIleValAspIleAlaProTyrAspIleGlyGlyProAspGlnGluPheGlyValAspValGlyProValCysPheLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674697",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304636.9:c.3325C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000090.4:c.3325C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000304408.4:p.Arg1109Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000081.2:p.Arg1109Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}