{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8645100",
  "communityStandardTitle": [
    "NM_000088.4(COL1A1):c.1792C>T (p.Arg598Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=414004[alleleid]",
        "alleleId": 414004,
        "preferredName": "NM_000088.4(COL1A1):c.1792C>T (p.Arg598Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/425603",
        "RCV": [
          "RCV000490706",
          "RCV001555740",
          "RCV002283484",
          "RCV002279255"
        ],
        "variationId": 425603
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-48270384-G-A",
        "id": "17-48270384-G-A",
        "variant": "17:48270384 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.48270384G>A?assembly=hg19",
        "id": "chr17:g.48270384G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.50193023G>A?assembly=hg38",
        "id": "chr17:g.50193023G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/72651614",
        "rs": 72651614
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-48270384-G-A?dataset=gnomad_r2_1",
        "id": "17-48270384-G-A",
        "variant": "17:48270384 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-50193023-G-A?dataset=gnomad_r4",
        "id": "17-50193023-G-A",
        "variant": "17:50193023 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 50193023,
          "referenceAllele": "G",
          "start": 50193022
        }
      ],
      "hgvs": [
        "NC_000017.11:g.50193023G>A",
        "CM000679.2:g.50193023G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 48270384,
          "referenceAllele": "G",
          "start": 48270383
        }
      ],
      "hgvs": [
        "NC_000017.10:g.48270384G>A",
        "CM000679.1:g.48270384G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 45625383,
          "referenceAllele": "G",
          "start": 45625382
        }
      ],
      "hgvs": [
        "NC_000017.9:g.45625383G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13617,
          "referenceAllele": "C",
          "start": 13616
        }
      ],
      "hgvs": [
        "NG_007400.1:g.13617C>T",
        "LRG_1:g.13617C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000567"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1910,
          "referenceAllele": "C",
          "start": 1909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000225964.10:c.1792C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225964.6:p.Arg598Ter",
        "hgvsWellDefined": "ENSP00000225964.6:p.Arg598_Leu1464delinsGlyValProGlyProProGlyAlaValGlyProAlaGlyLysAspGlyGluAlaGlyAlaGlnGlyProProGlyProAlaGlyProAlaGlyGluArgGlyGluGlnGlyProAlaGlySerProGlyPheGlnGlyLeuProGlyProAlaGlyProProGlyGluAlaGlyLysProGlyGluGlnGlyValProGlyAspLeuGlyAlaProGlyProSerGlyAlaArgGlyGluArgGlyPheProGlyGluArgGlyValGlnGlyProProGlyProAlaGlyProArgGlyAlaAsnGlyAlaProGlyAsnAspGlyAlaLysGlyAspAlaGlyAlaProGlyAlaProGlySerGlnGlyAlaProGlyLeuGlnGlyMetProGlyGluArgGlyAlaAlaGlyLeuProGlyProLysGlyAspArgGlyAspAlaGlyProLysGlyAlaAspGlySerProGlyLysAspGlyValArgGlyLeuThrGlyProIleGlyProProGlyProAlaGlyAlaProGlyAspLysGlyGluSerGlyProSerGlyProAlaGlyProThrGlyAlaArgGlyAlaProGlyAspArgGlyGluProGlyProProGlyProAlaGlyPheAlaGlyProProGlyAlaAspGlyGlnProGlyAlaLysGlyGluProGlyAspAlaGlyAlaLysGlyAspAlaGlyProProGlyProAlaGlyProAlaGlyProProGlyProIleGlyAsnValGlyAlaProGlyAlaLysGlyAlaArgGlySerAlaGlyProProGlyAlaThrGlyPheProGlyAlaAlaGlyArgValGlyProProGlyProSerGlyAsnAlaGlyProProGlyProProGlyProAlaGlyLysGluGlyGlyLysGlyProArgGlyGluThrGlyProAlaGlyArgProGlyGluValGlyProProGlyProProGlyProAlaGlyGluLysGlySerProGlyAlaAspGlyProAlaGlyAlaProGlyThrProGlyProGlnGlyIleAlaGlyGlnArgGlyValValGlyLeuProGlyGlnArgGlyGluArgGlyPheProGlyLeuProGlyProSerGlyGluProGlyLysGlnGlyProSerGlyAlaSerGlyGluArgGlyProProGlyProMetGlyProProGlyLeuAlaGlyProProGlyGluSerGlyArgGluGlyAlaProGlyAlaGluGlySerProGlyArgAspGlySerProGlyAlaLysGlyAspArgGlyGluThrGlyProAlaGlyProProGlyAlaProGlyAlaProGlyAlaProGlyProValGlyProAlaGlyLysSerGlyAspArgGlyGluThrGlyProAlaGlyProAlaGlyProValGlyProValGlyAlaArgGlyProAlaGlyProGlnGlyProArgGlyAspLysGlyGluThrGlyGluGlnGlyAspArgGlyIleLysGlyHisArgGlyPheSerGlyLeuGlnGlyProProGlyProProGlySerProGlyGluGlnGlyProSerGlyAlaSerGlyProAlaGlyProArgGlyProProGlySerAlaGlyAlaProGlyLysAspGlyLeuAsnGlyLeuProGlyProIleGlyProProGlyProArgGlyArgThrGlyAspAlaGlyProValGlyProProGlyProProGlyProProGlyProProGlyProProSerAlaGlyPheAspPheSerPheLeuProGlnProProGlnGluLysAlaHisAspGlyGlyArgTyrTyrArgAlaAspAspAlaAsnValValArgAspArgAspLeuGluValAspThrThrLeuLysSerLeuSerGlnGlnIleGluAsnIleArgSerProGluGlySerArgLysAsnProAlaArgThrCysArgAspLeuLysMetCysHisSerAspTrpLysSerGlyGluTyrTrpIleAspProAsnGlnGlyCysAsnLeuAspAlaIleLysValPheCysAsnMetGluThrGlyGluThrCysValTyrProThrGlnProSerValAlaGlnLysAsnTrpTyrIleSerLysAsnProLysAspLysArgHisValTrpPheGlyGluSerMetThrAspGlyPheGlnPheGluTyrGlyGlyGlnGlySerAspProAlaAspValAlaIleGlnLeuThrPheLeuArgLeuMetSerThrGluAlaSerGlnAsnIleThrTyrHisCysLysAsnSerValAlaTyrMetAspGlnGlnThrGlyAsnLeuLysLysAlaLeuLeuLeuGlnGlySerAsnGluIleGluIleArgAlaGluGlyAsnSerArgPheThrTyrSerValThrValAspGlyCysThrSerHisThrGlyAlaTrpGlyLysThrValIleGluTyrLysThrThrLysThrSerArgLeuProIleIleAspValAlaProLeuAspValGlyAlaProAspGlnGluPheGlyPheAspValGlyProValCysPheLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740684",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000225964.10:c.1792C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000088.4:c.1792C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000225964.6:p.Arg598Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000079.2:p.Arg598Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1911,
          "referenceAllele": "C",
          "start": 1910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000225964.9:c.1792C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000225964.5:p.Arg598Ter",
        "hgvsWellDefined": "ENSP00000225964.5:p.Arg598_Leu1464delinsGlyValProGlyProProGlyAlaValGlyProAlaGlyLysAspGlyGluAlaGlyAlaGlnGlyProProGlyProAlaGlyProAlaGlyGluArgGlyGluGlnGlyProAlaGlySerProGlyPheGlnGlyLeuProGlyProAlaGlyProProGlyGluAlaGlyLysProGlyGluGlnGlyValProGlyAspLeuGlyAlaProGlyProSerGlyAlaArgGlyGluArgGlyPheProGlyGluArgGlyValGlnGlyProProGlyProAlaGlyProArgGlyAlaAsnGlyAlaProGlyAsnAspGlyAlaLysGlyAspAlaGlyAlaProGlyAlaProGlySerGlnGlyAlaProGlyLeuGlnGlyMetProGlyGluArgGlyAlaAlaGlyLeuProGlyProLysGlyAspArgGlyAspAlaGlyProLysGlyAlaAspGlySerProGlyLysAspGlyValArgGlyLeuThrGlyProIleGlyProProGlyProAlaGlyAlaProGlyAspLysGlyGluSerGlyProSerGlyProAlaGlyProThrGlyAlaArgGlyAlaProGlyAspArgGlyGluProGlyProProGlyProAlaGlyPheAlaGlyProProGlyAlaAspGlyGlnProGlyAlaLysGlyGluProGlyAspAlaGlyAlaLysGlyAspAlaGlyProProGlyProAlaGlyProAlaGlyProProGlyProIleGlyAsnValGlyAlaProGlyAlaLysGlyAlaArgGlySerAlaGlyProProGlyAlaThrGlyPheProGlyAlaAlaGlyArgValGlyProProGlyProSerGlyAsnAlaGlyProProGlyProProGlyProAlaGlyLysGluGlyGlyLysGlyProArgGlyGluThrGlyProAlaGlyArgProGlyGluValGlyProProGlyProProGlyProAlaGlyGluLysGlySerProGlyAlaAspGlyProAlaGlyAlaProGlyThrProGlyProGlnGlyIleAlaGlyGlnArgGlyValValGlyLeuProGlyGlnArgGlyGluArgGlyPheProGlyLeuProGlyProSerGlyGluProGlyLysGlnGlyProSerGlyAlaSerGlyGluArgGlyProProGlyProMetGlyProProGlyLeuAlaGlyProProGlyGluSerGlyArgGluGlyAlaProGlyAlaGluGlySerProGlyArgAspGlySerProGlyAlaLysGlyAspArgGlyGluThrGlyProAlaGlyProProGlyAlaProGlyAlaProGlyAlaProGlyProValGlyProAlaGlyLysSerGlyAspArgGlyGluThrGlyProAlaGlyProAlaGlyProValGlyProValGlyAlaArgGlyProAlaGlyProGlnGlyProArgGlyAspLysGlyGluThrGlyGluGlnGlyAspArgGlyIleLysGlyHisArgGlyPheSerGlyLeuGlnGlyProProGlyProProGlySerProGlyGluGlnGlyProSerGlyAlaSerGlyProAlaGlyProArgGlyProProGlySerAlaGlyAlaProGlyLysAspGlyLeuAsnGlyLeuProGlyProIleGlyProProGlyProArgGlyArgThrGlyAspAlaGlyProValGlyProProGlyProProGlyProProGlyProProGlyProProSerAlaGlyPheAspPheSerPheLeuProGlnProProGlnGluLysAlaHisAspGlyGlyArgTyrTyrArgAlaAspAspAlaAsnValValArgAspArgAspLeuGluValAspThrThrLeuLysSerLeuSerGlnGlnIleGluAsnIleArgSerProGluGlySerArgLysAsnProAlaArgThrCysArgAspLeuLysMetCysHisSerAspTrpLysSerGlyGluTyrTrpIleAspProAsnGlnGlyCysAsnLeuAspAlaIleLysValPheCysAsnMetGluThrGlyGluThrCysValTyrProThrGlnProSerValAlaGlnLysAsnTrpTyrIleSerLysAsnProLysAspLysArgHisValTrpPheGlyGluSerMetThrAspGlyPheGlnPheGluTyrGlyGlyGlnGlySerAspProAlaAspValAlaIleGlnLeuThrPheLeuArgLeuMetSerThrGluAlaSerGlnAsnIleThrTyrHisCysLysAsnSerValAlaTyrMetAspGlnGlnThrGlyAsnLeuLysLysAlaLeuLeuLeuGlnGlySerAsnGluIleGluIleArgAlaGluGlyAsnSerArgPheThrTyrSerValThrValAspGlyCysThrSerHisThrGlyAlaTrpGlyLysThrValIleGluTyrLysThrThrLysThrSerArgLeuProIleIleAspValAlaProLeuAspValGlyAlaProAspGlnGluPheGlyPheAspValGlyProValCysPheLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 141,
          "referenceAllele": "C",
          "start": 140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "ENST00000476387.1:n.141C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317454"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645451986",
      "coordinates": [
        {
          "allele": "T",
          "end": 1918,
          "referenceAllele": "C",
          "start": 1917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "NM_000088.3:c.1792C>T",
        "LRG_1t1:c.1792C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000079.2:p.Arg598Ter",
        "hgvsWellDefined": "NP_000079.2:p.Arg598_Leu1464delinsGlyValProGlyProProGlyAlaValGlyProAlaGlyLysAspGlyGluAlaGlyAlaGlnGlyProProGlyProAlaGlyProAlaGlyGluArgGlyGluGlnGlyProAlaGlySerProGlyPheGlnGlyLeuProGlyProAlaGlyProProGlyGluAlaGlyLysProGlyGluGlnGlyValProGlyAspLeuGlyAlaProGlyProSerGlyAlaArgGlyGluArgGlyPheProGlyGluArgGlyValGlnGlyProProGlyProAlaGlyProArgGlyAlaAsnGlyAlaProGlyAsnAspGlyAlaLysGlyAspAlaGlyAlaProGlyAlaProGlySerGlnGlyAlaProGlyLeuGlnGlyMetProGlyGluArgGlyAlaAlaGlyLeuProGlyProLysGlyAspArgGlyAspAlaGlyProLysGlyAlaAspGlySerProGlyLysAspGlyValArgGlyLeuThrGlyProIleGlyProProGlyProAlaGlyAlaProGlyAspLysGlyGluSerGlyProSerGlyProAlaGlyProThrGlyAlaArgGlyAlaProGlyAspArgGlyGluProGlyProProGlyProAlaGlyPheAlaGlyProProGlyAlaAspGlyGlnProGlyAlaLysGlyGluProGlyAspAlaGlyAlaLysGlyAspAlaGlyProProGlyProAlaGlyProAlaGlyProProGlyProIleGlyAsnValGlyAlaProGlyAlaLysGlyAlaArgGlySerAlaGlyProProGlyAlaThrGlyPheProGlyAlaAlaGlyArgValGlyProProGlyProSerGlyAsnAlaGlyProProGlyProProGlyProAlaGlyLysGluGlyGlyLysGlyProArgGlyGluThrGlyProAlaGlyArgProGlyGluValGlyProProGlyProProGlyProAlaGlyGluLysGlySerProGlyAlaAspGlyProAlaGlyAlaProGlyThrProGlyProGlnGlyIleAlaGlyGlnArgGlyValValGlyLeuProGlyGlnArgGlyGluArgGlyPheProGlyLeuProGlyProSerGlyGluProGlyLysGlnGlyProSerGlyAlaSerGlyGluArgGlyProProGlyProMetGlyProProGlyLeuAlaGlyProProGlyGluSerGlyArgGluGlyAlaProGlyAlaGluGlySerProGlyArgAspGlySerProGlyAlaLysGlyAspArgGlyGluThrGlyProAlaGlyProProGlyAlaProGlyAlaProGlyAlaProGlyProValGlyProAlaGlyLysSerGlyAspArgGlyGluThrGlyProAlaGlyProAlaGlyProValGlyProValGlyAlaArgGlyProAlaGlyProGlnGlyProArgGlyAspLysGlyGluThrGlyGluGlnGlyAspArgGlyIleLysGlyHisArgGlyPheSerGlyLeuGlnGlyProProGlyProProGlySerProGlyGluGlnGlyProSerGlyAlaSerGlyProAlaGlyProArgGlyProProGlySerAlaGlyAlaProGlyLysAspGlyLeuAsnGlyLeuProGlyProIleGlyProProGlyProArgGlyArgThrGlyAspAlaGlyProValGlyProProGlyProProGlyProProGlyProProGlyProProSerAlaGlyPheAspPheSerPheLeuProGlnProProGlnGluLysAlaHisAspGlyGlyArgTyrTyrArgAlaAspAspAlaAsnValValArgAspArgAspLeuGluValAspThrThrLeuLysSerLeuSerGlnGlnIleGluAsnIleArgSerProGluGlySerArgLysAsnProAlaArgThrCysArgAspLeuLysMetCysHisSerAspTrpLysSerGlyGluTyrTrpIleAspProAsnGlnGlyCysAsnLeuAspAlaIleLysValPheCysAsnMetGluThrGlyGluThrCysValTyrProThrGlnProSerValAlaGlnLysAsnTrpTyrIleSerLysAsnProLysAspLysArgHisValTrpPheGlyGluSerMetThrAspGlyPheGlnPheGluTyrGlyGlyGlnGlySerAspProAlaAspValAlaIleGlnLeuThrPheLeuArgLeuMetSerThrGluAlaSerGlnAsnIleThrTyrHisCysLysAsnSerValAlaTyrMetAspGlnGlnThrGlyAsnLeuLysLysAlaLeuLeuLeuGlnGlySerAsnGluIleGluIleArgAlaGluGlyAsnSerArgPheThrTyrSerValThrValAspGlyCysThrSerHisThrGlyAlaTrpGlyLysThrValIleGluTyrLysThrThrLysThrSerArgLeuProIleIleAspValAlaProLeuAspValGlyAlaProAspGlnGluPheGlyPheAspValGlyProValCysPheLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006152"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1927,
          "referenceAllele": "C",
          "start": 1926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257058.3:c.1792C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257115.2:p.Arg598Ter",
        "hgvsWellDefined": "XP_005257115.2:p.Arg598_Leu1374delinsGlyValProGlyProProGlyAlaValGlyProAlaGlyLysAspGlyGluAlaGlyAlaGlnGlyProProGlyProAlaGlyProAlaGlyGluArgGlyGluGlnGlyProAlaGlySerProGlyPheGlnGlyLeuProGlyProAlaGlyProProGlyGluAlaGlyLysProGlyGluGlnGlyValProGlyAspLeuGlyAlaProGlyProSerGlyAlaArgGlyGluArgGlyPheProGlyGluArgGlyValGlnGlyProProGlyProAlaGlyProArgGlyAlaAsnGlyAlaProGlyAsnAspGlyAlaLysGlyAspAlaGlyAlaProGlyAlaProGlySerGlnGlyAlaProGlyLeuGlnGlyMetProGlyGluArgGlyAlaAlaGlyLeuProGlyProLysGlyAspArgGlyAspAlaGlyProLysGlyAlaAspGlySerProGlyLysAspGlyValArgGlyLeuThrGlyProIleGlyProProGlyProAlaGlyAlaProGlyAspLysGlyGluSerGlyProSerGlyProAlaGlyProThrGlyAlaArgGlyAlaProGlyAspArgGlyGluProGlyProProGlyProAlaGlyPheAlaGlyProProGlyAlaAspGlyGlnProGlyAlaLysGlyGluProGlyAspAlaGlyAlaLysGlyAspAlaGlyProProGlyProAlaGlyProAlaGlyProProGlyProIleGlyAsnValGlyAlaProGlyAlaLysGlyAlaArgGlySerAlaGlyProProGlyAlaThrGlyPheProGlyAlaAlaGlyArgValGlyProProGlyProSerGlyGluProGlyLysGlnGlyProSerGlyAlaSerGlyGluArgGlyProProGlyProMetGlyProProGlyLeuAlaGlyProProGlyGluSerGlyArgGluGlyAlaProGlyAlaGluGlySerProGlyArgAspGlySerProGlyAlaLysGlyAspArgGlyGluThrGlyProAlaGlyProProGlyAlaProGlyAlaProGlyAlaProGlyProValGlyProAlaGlyLysSerGlyAspArgGlyGluThrGlyProAlaGlyProAlaGlyProValGlyProValGlyAlaArgGlyProAlaGlyProGlnGlyProArgGlyAspLysGlyGluThrGlyGluGlnGlyAspArgGlyIleLysGlyHisArgGlyPheSerGlyLeuGlnGlyProProGlyProProGlySerProGlyGluGlnGlyProSerGlyAlaSerGlyProAlaGlyProArgGlyProProGlySerAlaGlyAlaProGlyLysAspGlyLeuAsnGlyLeuProGlyProIleGlyProProGlyProArgGlyArgThrGlyAspAlaGlyProValGlyProProGlyProProGlyProProGlyProProGlyProProSerAlaGlyPheAspPheSerPheLeuProGlnProProGlnGluLysAlaHisAspGlyGlyArgTyrTyrArgAlaAspAspAlaAsnValValArgAspArgAspLeuGluValAspThrThrLeuLysSerLeuSerGlnGlnIleGluAsnIleArgSerProGluGlySerArgLysAsnProAlaArgThrCysArgAspLeuLysMetCysHisSerAspTrpLysSerGlyGluTyrTrpIleAspProAsnGlnGlyCysAsnLeuAspAlaIleLysValPheCysAsnMetGluThrGlyGluThrCysValTyrProThrGlnProSerValAlaGlnLysAsnTrpTyrIleSerLysAsnProLysAspLysArgHisValTrpPheGlyGluSerMetThrAspGlyPheGlnPheGluTyrGlyGlyGlnGlySerAspProAlaAspValAlaIleGlnLeuThrPheLeuArgLeuMetSerThrGluAlaSerGlnAsnIleThrTyrHisCysLysAsnSerValAlaTyrMetAspGlnGlnThrGlyAsnLeuLysLysAlaLeuLeuLeuGlnGlySerAsnGluIleGluIleArgAlaGluGlyAsnSerArgPheThrTyrSerValThrValAspGlyCysThrSerHisThrGlyAlaTrpGlyLysThrValIleGluTyrLysThrThrLysThrSerArgLeuProIleIleAspValAlaProLeuAspValGlyAlaProAspGlnGluPheGlyPheAspValGlyProValCysPheLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061555"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1091,
          "endIntronDirection": "-",
          "endIntronOffset": 329,
          "referenceAllele": "C",
          "start": 1091,
          "startIntronDirection": "-",
          "startIntronOffset": 330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257059.3:c.958-330C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257116.2:n.958-330C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061556"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1729,
          "referenceAllele": "C",
          "start": 1728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_011524341.1:c.1594C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522643.1:p.Arg532Ter",
        "hgvsWellDefined": "XP_011522643.1:p.Arg532_Leu1398delinsGlyValProGlyProProGlyAlaValGlyProAlaGlyLysAspGlyGluAlaGlyAlaGlnGlyProProGlyProAlaGlyProAlaGlyGluArgGlyGluGlnGlyProAlaGlySerProGlyPheGlnGlyLeuProGlyProAlaGlyProProGlyGluAlaGlyLysProGlyGluGlnGlyValProGlyAspLeuGlyAlaProGlyProSerGlyAlaArgGlyGluArgGlyPheProGlyGluArgGlyValGlnGlyProProGlyProAlaGlyProArgGlyAlaAsnGlyAlaProGlyAsnAspGlyAlaLysGlyAspAlaGlyAlaProGlyAlaProGlySerGlnGlyAlaProGlyLeuGlnGlyMetProGlyGluArgGlyAlaAlaGlyLeuProGlyProLysGlyAspArgGlyAspAlaGlyProLysGlyAlaAspGlySerProGlyLysAspGlyValArgGlyLeuThrGlyProIleGlyProProGlyProAlaGlyAlaProGlyAspLysGlyGluSerGlyProSerGlyProAlaGlyProThrGlyAlaArgGlyAlaProGlyAspArgGlyGluProGlyProProGlyProAlaGlyPheAlaGlyProProGlyAlaAspGlyGlnProGlyAlaLysGlyGluProGlyAspAlaGlyAlaLysGlyAspAlaGlyProProGlyProAlaGlyProAlaGlyProProGlyProIleGlyAsnValGlyAlaProGlyAlaLysGlyAlaArgGlySerAlaGlyProProGlyAlaThrGlyPheProGlyAlaAlaGlyArgValGlyProProGlyProSerGlyAsnAlaGlyProProGlyProProGlyProAlaGlyLysGluGlyGlyLysGlyProArgGlyGluThrGlyProAlaGlyArgProGlyGluValGlyProProGlyProProGlyProAlaGlyGluLysGlySerProGlyAlaAspGlyProAlaGlyAlaProGlyThrProGlyProGlnGlyIleAlaGlyGlnArgGlyValValGlyLeuProGlyGlnArgGlyGluArgGlyPheProGlyLeuProGlyProSerGlyGluProGlyLysGlnGlyProSerGlyAlaSerGlyGluArgGlyProProGlyProMetGlyProProGlyLeuAlaGlyProProGlyGluSerGlyArgGluGlyAlaProGlyAlaGluGlySerProGlyArgAspGlySerProGlyAlaLysGlyAspArgGlyGluThrGlyProAlaGlyProProGlyAlaProGlyAlaProGlyAlaProGlyProValGlyProAlaGlyLysSerGlyAspArgGlyGluThrGlyProAlaGlyProAlaGlyProValGlyProValGlyAlaArgGlyProAlaGlyProGlnGlyProArgGlyAspLysGlyGluThrGlyGluGlnGlyAspArgGlyIleLysGlyHisArgGlyPheSerGlyLeuGlnGlyProProGlyProProGlySerProGlyGluGlnGlyProSerGlyAlaSerGlyProAlaGlyProArgGlyProProGlySerAlaGlyAlaProGlyLysAspGlyLeuAsnGlyLeuProGlyProIleGlyProProGlyProArgGlyArgThrGlyAspAlaGlyProValGlyProProGlyProProGlyProProGlyProProGlyProProSerAlaGlyPheAspPheSerPheLeuProGlnProProGlnGluLysAlaHisAspGlyGlyArgTyrTyrArgAlaAspAspAlaAsnValValArgAspArgAspLeuGluValAspThrThrLeuLysSerLeuSerGlnGlnIleGluAsnIleArgSerProGluGlySerArgLysAsnProAlaArgThrCysArgAspLeuLysMetCysHisSerAspTrpLysSerGlyGluTyrTrpIleAspProAsnGlnGlyCysAsnLeuAspAlaIleLysValPheCysAsnMetGluThrGlyGluThrCysValTyrProThrGlnProSerValAlaGlnLysAsnTrpTyrIleSerLysAsnProLysAspLysArgHisValTrpPheGlyGluSerMetThrAspGlyPheGlnPheGluTyrGlyGlyGlnGlySerAspProAlaAspValAlaIleGlnLeuThrPheLeuArgLeuMetSerThrGluAlaSerGlnAsnIleThrTyrHisCysLysAsnSerValAlaTyrMetAspGlnGlnThrGlyAsnLeuLysLysAlaLeuLeuLeuGlnGlySerAsnGluIleGluIleArgAlaGluGlyAsnSerArgPheThrTyrSerValThrValAspGlyCysThrSerHisThrGlyAlaTrpGlyLysThrValIleGluTyrLysThrThrLysThrSerArgLeuProIleIleAspValAlaProLeuAspValGlyAlaProAspGlnGluPheGlyPheAspValGlyProValCysPheLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091468"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1928,
          "referenceAllele": "C",
          "start": 1927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257058.4:c.1792C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257115.2:p.Arg598Ter",
        "hgvsWellDefined": "XP_005257115.2:p.Arg598_Leu1374delinsGlyValProGlyProProGlyAlaValGlyProAlaGlyLysAspGlyGluAlaGlyAlaGlnGlyProProGlyProAlaGlyProAlaGlyGluArgGlyGluGlnGlyProAlaGlySerProGlyPheGlnGlyLeuProGlyProAlaGlyProProGlyGluAlaGlyLysProGlyGluGlnGlyValProGlyAspLeuGlyAlaProGlyProSerGlyAlaArgGlyGluArgGlyPheProGlyGluArgGlyValGlnGlyProProGlyProAlaGlyProArgGlyAlaAsnGlyAlaProGlyAsnAspGlyAlaLysGlyAspAlaGlyAlaProGlyAlaProGlySerGlnGlyAlaProGlyLeuGlnGlyMetProGlyGluArgGlyAlaAlaGlyLeuProGlyProLysGlyAspArgGlyAspAlaGlyProLysGlyAlaAspGlySerProGlyLysAspGlyValArgGlyLeuThrGlyProIleGlyProProGlyProAlaGlyAlaProGlyAspLysGlyGluSerGlyProSerGlyProAlaGlyProThrGlyAlaArgGlyAlaProGlyAspArgGlyGluProGlyProProGlyProAlaGlyPheAlaGlyProProGlyAlaAspGlyGlnProGlyAlaLysGlyGluProGlyAspAlaGlyAlaLysGlyAspAlaGlyProProGlyProAlaGlyProAlaGlyProProGlyProIleGlyAsnValGlyAlaProGlyAlaLysGlyAlaArgGlySerAlaGlyProProGlyAlaThrGlyPheProGlyAlaAlaGlyArgValGlyProProGlyProSerGlyGluProGlyLysGlnGlyProSerGlyAlaSerGlyGluArgGlyProProGlyProMetGlyProProGlyLeuAlaGlyProProGlyGluSerGlyArgGluGlyAlaProGlyAlaGluGlySerProGlyArgAspGlySerProGlyAlaLysGlyAspArgGlyGluThrGlyProAlaGlyProProGlyAlaProGlyAlaProGlyAlaProGlyProValGlyProAlaGlyLysSerGlyAspArgGlyGluThrGlyProAlaGlyProAlaGlyProValGlyProValGlyAlaArgGlyProAlaGlyProGlnGlyProArgGlyAspLysGlyGluThrGlyGluGlnGlyAspArgGlyIleLysGlyHisArgGlyPheSerGlyLeuGlnGlyProProGlyProProGlySerProGlyGluGlnGlyProSerGlyAlaSerGlyProAlaGlyProArgGlyProProGlySerAlaGlyAlaProGlyLysAspGlyLeuAsnGlyLeuProGlyProIleGlyProProGlyProArgGlyArgThrGlyAspAlaGlyProValGlyProProGlyProProGlyProProGlyProProGlyProProSerAlaGlyPheAspPheSerPheLeuProGlnProProGlnGluLysAlaHisAspGlyGlyArgTyrTyrArgAlaAspAspAlaAsnValValArgAspArgAspLeuGluValAspThrThrLeuLysSerLeuSerGlnGlnIleGluAsnIleArgSerProGluGlySerArgLysAsnProAlaArgThrCysArgAspLeuLysMetCysHisSerAspTrpLysSerGlyGluTyrTrpIleAspProAsnGlnGlyCysAsnLeuAspAlaIleLysValPheCysAsnMetGluThrGlyGluThrCysValTyrProThrGlnProSerValAlaGlnLysAsnTrpTyrIleSerLysAsnProLysAspLysArgHisValTrpPheGlyGluSerMetThrAspGlyPheGlnPheGluTyrGlyGlyGlnGlySerAspProAlaAspValAlaIleGlnLeuThrPheLeuArgLeuMetSerThrGluAlaSerGlnAsnIleThrTyrHisCysLysAsnSerValAlaTyrMetAspGlnGlnThrGlyAsnLeuLysLysAlaLeuLeuLeuGlnGlySerAsnGluIleGluIleArgAlaGluGlyAsnSerArgPheThrTyrSerValThrValAspGlyCysThrSerHisThrGlyAlaTrpGlyLysThrValIleGluTyrLysThrThrLysThrSerArgLeuProIleIleAspValAlaProLeuAspValGlyAlaProAspGlnGluPheGlyPheAspValGlyProValCysPheLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534587"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1092,
          "endIntronDirection": "-",
          "endIntronOffset": 329,
          "referenceAllele": "C",
          "start": 1092,
          "startIntronDirection": "-",
          "startIntronOffset": 330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "XM_005257059.4:c.958-330C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257116.2:n.958-330C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534588"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645451986",
      "coordinates": [
        {
          "allele": "T",
          "end": 1910,
          "referenceAllele": "C",
          "start": 1909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "NM_000088.4:c.1792C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000079.2:p.Arg598Ter",
        "hgvsWellDefined": "NP_000079.2:p.Arg598_Leu1464delinsGlyValProGlyProProGlyAlaValGlyProAlaGlyLysAspGlyGluAlaGlyAlaGlnGlyProProGlyProAlaGlyProAlaGlyGluArgGlyGluGlnGlyProAlaGlySerProGlyPheGlnGlyLeuProGlyProAlaGlyProProGlyGluAlaGlyLysProGlyGluGlnGlyValProGlyAspLeuGlyAlaProGlyProSerGlyAlaArgGlyGluArgGlyPheProGlyGluArgGlyValGlnGlyProProGlyProAlaGlyProArgGlyAlaAsnGlyAlaProGlyAsnAspGlyAlaLysGlyAspAlaGlyAlaProGlyAlaProGlySerGlnGlyAlaProGlyLeuGlnGlyMetProGlyGluArgGlyAlaAlaGlyLeuProGlyProLysGlyAspArgGlyAspAlaGlyProLysGlyAlaAspGlySerProGlyLysAspGlyValArgGlyLeuThrGlyProIleGlyProProGlyProAlaGlyAlaProGlyAspLysGlyGluSerGlyProSerGlyProAlaGlyProThrGlyAlaArgGlyAlaProGlyAspArgGlyGluProGlyProProGlyProAlaGlyPheAlaGlyProProGlyAlaAspGlyGlnProGlyAlaLysGlyGluProGlyAspAlaGlyAlaLysGlyAspAlaGlyProProGlyProAlaGlyProAlaGlyProProGlyProIleGlyAsnValGlyAlaProGlyAlaLysGlyAlaArgGlySerAlaGlyProProGlyAlaThrGlyPheProGlyAlaAlaGlyArgValGlyProProGlyProSerGlyAsnAlaGlyProProGlyProProGlyProAlaGlyLysGluGlyGlyLysGlyProArgGlyGluThrGlyProAlaGlyArgProGlyGluValGlyProProGlyProProGlyProAlaGlyGluLysGlySerProGlyAlaAspGlyProAlaGlyAlaProGlyThrProGlyProGlnGlyIleAlaGlyGlnArgGlyValValGlyLeuProGlyGlnArgGlyGluArgGlyPheProGlyLeuProGlyProSerGlyGluProGlyLysGlnGlyProSerGlyAlaSerGlyGluArgGlyProProGlyProMetGlyProProGlyLeuAlaGlyProProGlyGluSerGlyArgGluGlyAlaProGlyAlaGluGlySerProGlyArgAspGlySerProGlyAlaLysGlyAspArgGlyGluThrGlyProAlaGlyProProGlyAlaProGlyAlaProGlyAlaProGlyProValGlyProAlaGlyLysSerGlyAspArgGlyGluThrGlyProAlaGlyProAlaGlyProValGlyProValGlyAlaArgGlyProAlaGlyProGlnGlyProArgGlyAspLysGlyGluThrGlyGluGlnGlyAspArgGlyIleLysGlyHisArgGlyPheSerGlyLeuGlnGlyProProGlyProProGlySerProGlyGluGlnGlyProSerGlyAlaSerGlyProAlaGlyProArgGlyProProGlySerAlaGlyAlaProGlyLysAspGlyLeuAsnGlyLeuProGlyProIleGlyProProGlyProArgGlyArgThrGlyAspAlaGlyProValGlyProProGlyProProGlyProProGlyProProGlyProProSerAlaGlyPheAspPheSerPheLeuProGlnProProGlnGluLysAlaHisAspGlyGlyArgTyrTyrArgAlaAspAspAlaAsnValValArgAspArgAspLeuGluValAspThrThrLeuLysSerLeuSerGlnGlnIleGluAsnIleArgSerProGluGlySerArgLysAsnProAlaArgThrCysArgAspLeuLysMetCysHisSerAspTrpLysSerGlyGluTyrTrpIleAspProAsnGlnGlyCysAsnLeuAspAlaIleLysValPheCysAsnMetGluThrGlyGluThrCysValTyrProThrGlnProSerValAlaGlnLysAsnTrpTyrIleSerLysAsnProLysAspLysArgHisValTrpPheGlyGluSerMetThrAspGlyPheGlnPheGluTyrGlyGlyGlnGlySerAspProAlaAspValAlaIleGlnLeuThrPheLeuArgLeuMetSerThrGluAlaSerGlnAsnIleThrTyrHisCysLysAsnSerValAlaTyrMetAspGlnGlnThrGlyAsnLeuLysLysAlaLeuLeuLeuGlnGlySerAsnGluIleGluIleArgAlaGluGlyAsnSerArgPheThrTyrSerValThrValAspGlyCysThrSerHisThrGlyAlaTrpGlyLysThrValIleGluTyrLysThrThrLysThrSerArgLeuProIleIleAspValAlaProLeuAspValGlyAlaProAspGlnGluPheGlyPheAspValGlyProValCysPheLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674695",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000225964.10:c.1792C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000088.4:c.1792C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000225964.6:p.Arg598Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000079.2:p.Arg598Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}