{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA350850813",
  "communityStandardTitle": [
    "NM_000091.5(COL4A3):c.2638G>T (p.Gly880Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1059236[alleleid]",
        "alleleId": 1059236,
        "preferredName": "NM_000091.5(COL4A3):c.2638G>T (p.Gly880Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1070962",
        "RCV": [
          "RCV001383297"
        ],
        "variationId": 1070962
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.228147230G>T?assembly=hg19",
        "id": "chr2:g.228147230G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.227282514G>T?assembly=hg38",
        "id": "chr2:g.227282514G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2106164697",
        "rs": 2106164697
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 227282514,
          "referenceAllele": "G",
          "start": 227282513
        }
      ],
      "hgvs": [
        "NC_000002.12:g.227282514G>T",
        "CM000664.2:g.227282514G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 228147230,
          "referenceAllele": "G",
          "start": 228147229
        }
      ],
      "hgvs": [
        "NC_000002.11:g.228147230G>T",
        "CM000664.1:g.228147230G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 227855474,
          "referenceAllele": "G",
          "start": 227855473
        }
      ],
      "hgvs": [
        "NC_000002.10:g.227855474G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 122950,
          "referenceAllele": "G",
          "start": 122949
        }
      ],
      "hgvs": [
        "NG_011591.1:g.122950G>T",
        "LRG_230:g.122950G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001839"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2741,
          "referenceAllele": "G",
          "start": 2740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "ENST00000396578.8:c.2638G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379823.3:p.Gly880Ter",
        "hgvsWellDefined": "ENSP00000379823.3:p.Gly880_His1670delinsIleLeuGlyProProGlyGluAspGlyValIleGlyMetMetGlyPheProGlyAlaIleGlyProProGlyProProGlyAsnProGlyThrProGlyGlnArgGlySerProGlyIleProGlyValLysGlyGlnArgGlyThrProGlyAlaLysGlyGluGlnGlyAspLysGlyAsnProGlyProSerGluIleSerHisValIleGlyAspLysGlyGluProGlyLeuLysGlyPheAlaGlyAsnProGlyGluLysGlyAsnArgGlyValProGlyMetProGlyLeuLysGlyLeuLysGlyLeuProGlyProAlaGlyProProGlyProArgGlyAspLeuGlySerThrGlyAsnProGlyGluProGlyLeuArgGlyIleProGlySerMetGlyAsnMetGlyMetProGlySerLysGlyLysArgGlyThrLeuGlyPheProGlyArgAlaGlyArgProGlyLeuProGlyIleHisGlyLeuGlnGlyAspLysGlyGluProGlyTyrSerGluGlyThrArgProGlyProProGlyProThrGlyAspProGlyLeuProGlyAspMetGlyLysLysGlyGluMetGlyGlnProGlyProProGlyHisLeuGlyProAlaGlyProGluGlyAlaProGlySerProGlySerProGlyLeuProGlyLysProGlyProHisGlyAspLeuGlyPheLysGlyIleLysGlyLeuLeuGlyProProGlyIleArgGlyProProGlyLeuProGlyPheProGlySerProGlyProMetGlyIleArgGlyAspGlnGlyArgAspGlyIleProGlyProAlaGlyGluLysGlyGluThrGlyLeuLeuArgAlaProProGlyProArgGlyAsnProGlyAlaGlnGlyAlaLysGlyAspArgGlyAlaProGlyPheProGlyLeuProGlyArgLysGlyAlaMetGlyAspAlaGlyProArgGlyProThrGlyIleGluGlyPheProGlyProProGlyLeuProGlyAlaIleIleProGlyGlnThrGlyAsnArgGlyProProGlySerArgGlySerProGlyAlaProGlyProProGlyProProGlySerHisValIleGlyIleLysGlyAspLysGlySerMetGlyHisProGlyProLysGlyProProGlyThrAlaGlyAspMetGlyProProGlyArgLeuGlyAlaProGlyThrProGlyLeuProGlyProArgGlyAspProGlyPheGlnGlyPheProGlyValLysGlyGluLysGlyAsnProGlyPheLeuGlySerIleGlyProProGlyProIleGlyProLysGlyProProGlyValArgGlyAspProGlyThrLeuLysIleIleSerLeuProGlySerProGlyProProGlyThrProGlyGluProGlyMetGlnGlyGluProGlyProProGlyProProGlyAsnLeuGlyProCysGlyProArgGlyLysProGlyLysAspGlyLysProGlyThrProGlyProAlaGlyGluLysGlyAsnLysGlySerLysGlyGluProGlyProAlaGlySerAspGlyLeuProGlyLeuLysGlyLysArgGlyAspSerGlySerProAlaThrTrpThrThrArgGlyPheValPheThrArgHisSerGlnThrThrAlaIleProSerCysProGluGlyThrValProLeuTyrSerGlyPheSerPheLeuPheValGlnGlyAsnGlnArgAlaHisGlyGlnAspLeuGlyThrLeuGlySerCysLeuGlnArgPheThrThrMetProPheLeuPheCysAsnValAsnAspValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProAlaLeuMetProMetAsnMetAlaProIleThrGlyArgAlaLeuGluProTyrIleSerArgCysThrValCysGluGlyProAlaIleAlaIleAlaValHisSerGlnThrThrAspIleProProCysProHisGlyTrpIleSerLeuTrpLysGlyPheSerPheIleMetPheThrSerAlaGlySerGluGlyThrGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgAlaSerProPheLeuGluCysHisGlyArgGlyThrCysAsnTyrTyrSerAsnSerTyrSerPheTrpLeuAlaSerLeuAsnProGluArgMetPheArgLysProIleProSerThrValLysAlaGlyGluLeuGluLysIleIleSerArgCysGlnValCysMetLysLysArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753536",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396578.8:c.2638G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000091.5:c.2638G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379823.3:p.Gly880Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000082.2:p.Gly880Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2800,
          "referenceAllele": "G",
          "start": 2799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "ENST00000396578.7:c.2638G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379823.3:p.Gly880Ter",
        "hgvsWellDefined": "ENSP00000379823.3:p.Gly880_His1670delinsIleLeuGlyProProGlyGluAspGlyValIleGlyMetMetGlyPheProGlyAlaIleGlyProProGlyProProGlyAsnProGlyThrProGlyGlnArgGlySerProGlyIleProGlyValLysGlyGlnArgGlyThrProGlyAlaLysGlyGluGlnGlyAspLysGlyAsnProGlyProSerGluIleSerHisValIleGlyAspLysGlyGluProGlyLeuLysGlyPheAlaGlyAsnProGlyGluLysGlyAsnArgGlyValProGlyMetProGlyLeuLysGlyLeuLysGlyLeuProGlyProAlaGlyProProGlyProArgGlyAspLeuGlySerThrGlyAsnProGlyGluProGlyLeuArgGlyIleProGlySerMetGlyAsnMetGlyMetProGlySerLysGlyLysArgGlyThrLeuGlyPheProGlyArgAlaGlyArgProGlyLeuProGlyIleHisGlyLeuGlnGlyAspLysGlyGluProGlyTyrSerGluGlyThrArgProGlyProProGlyProThrGlyAspProGlyLeuProGlyAspMetGlyLysLysGlyGluMetGlyGlnProGlyProProGlyHisLeuGlyProAlaGlyProGluGlyAlaProGlySerProGlySerProGlyLeuProGlyLysProGlyProHisGlyAspLeuGlyPheLysGlyIleLysGlyLeuLeuGlyProProGlyIleArgGlyProProGlyLeuProGlyPheProGlySerProGlyProMetGlyIleArgGlyAspGlnGlyArgAspGlyIleProGlyProAlaGlyGluLysGlyGluThrGlyLeuLeuArgAlaProProGlyProArgGlyAsnProGlyAlaGlnGlyAlaLysGlyAspArgGlyAlaProGlyPheProGlyLeuProGlyArgLysGlyAlaMetGlyAspAlaGlyProArgGlyProThrGlyIleGluGlyPheProGlyProProGlyLeuProGlyAlaIleIleProGlyGlnThrGlyAsnArgGlyProProGlySerArgGlySerProGlyAlaProGlyProProGlyProProGlySerHisValIleGlyIleLysGlyAspLysGlySerMetGlyHisProGlyProLysGlyProProGlyThrAlaGlyAspMetGlyProProGlyArgLeuGlyAlaProGlyThrProGlyLeuProGlyProArgGlyAspProGlyPheGlnGlyPheProGlyValLysGlyGluLysGlyAsnProGlyPheLeuGlySerIleGlyProProGlyProIleGlyProLysGlyProProGlyValArgGlyAspProGlyThrLeuLysIleIleSerLeuProGlySerProGlyProProGlyThrProGlyGluProGlyMetGlnGlyGluProGlyProProGlyProProGlyAsnLeuGlyProCysGlyProArgGlyLysProGlyLysAspGlyLysProGlyThrProGlyProAlaGlyGluLysGlyAsnLysGlySerLysGlyGluProGlyProAlaGlySerAspGlyLeuProGlyLeuLysGlyLysArgGlyAspSerGlySerProAlaThrTrpThrThrArgGlyPheValPheThrArgHisSerGlnThrThrAlaIleProSerCysProGluGlyThrValProLeuTyrSerGlyPheSerPheLeuPheValGlnGlyAsnGlnArgAlaHisGlyGlnAspLeuGlyThrLeuGlySerCysLeuGlnArgPheThrThrMetProPheLeuPheCysAsnValAsnAspValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProAlaLeuMetProMetAsnMetAlaProIleThrGlyArgAlaLeuGluProTyrIleSerArgCysThrValCysGluGlyProAlaIleAlaIleAlaValHisSerGlnThrThrAspIleProProCysProHisGlyTrpIleSerLeuTrpLysGlyPheSerPheIleMetPheThrSerAlaGlySerGluGlyThrGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgAlaSerProPheLeuGluCysHisGlyArgGlyThrCysAsnTyrTyrSerAsnSerTyrSerPheTrpLeuAlaSerLeuAsnProGluArgMetPheArgLysProIleProSerThrValLysAlaGlyGluLeuGluLysIleIleSerArgCysGlnValCysMetLysLysArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277337"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499228190",
      "coordinates": [
        {
          "allele": "T",
          "end": 2800,
          "referenceAllele": "G",
          "start": 2799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "NM_000091.4:c.2638G>T",
        "LRG_230t1:c.2638G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000082.2:p.Gly880Ter",
        "hgvsWellDefined": "NP_000082.2:p.Gly880_His1670delinsIleLeuGlyProProGlyGluAspGlyValIleGlyMetMetGlyPheProGlyAlaIleGlyProProGlyProProGlyAsnProGlyThrProGlyGlnArgGlySerProGlyIleProGlyValLysGlyGlnArgGlyThrProGlyAlaLysGlyGluGlnGlyAspLysGlyAsnProGlyProSerGluIleSerHisValIleGlyAspLysGlyGluProGlyLeuLysGlyPheAlaGlyAsnProGlyGluLysGlyAsnArgGlyValProGlyMetProGlyLeuLysGlyLeuLysGlyLeuProGlyProAlaGlyProProGlyProArgGlyAspLeuGlySerThrGlyAsnProGlyGluProGlyLeuArgGlyIleProGlySerMetGlyAsnMetGlyMetProGlySerLysGlyLysArgGlyThrLeuGlyPheProGlyArgAlaGlyArgProGlyLeuProGlyIleHisGlyLeuGlnGlyAspLysGlyGluProGlyTyrSerGluGlyThrArgProGlyProProGlyProThrGlyAspProGlyLeuProGlyAspMetGlyLysLysGlyGluMetGlyGlnProGlyProProGlyHisLeuGlyProAlaGlyProGluGlyAlaProGlySerProGlySerProGlyLeuProGlyLysProGlyProHisGlyAspLeuGlyPheLysGlyIleLysGlyLeuLeuGlyProProGlyIleArgGlyProProGlyLeuProGlyPheProGlySerProGlyProMetGlyIleArgGlyAspGlnGlyArgAspGlyIleProGlyProAlaGlyGluLysGlyGluThrGlyLeuLeuArgAlaProProGlyProArgGlyAsnProGlyAlaGlnGlyAlaLysGlyAspArgGlyAlaProGlyPheProGlyLeuProGlyArgLysGlyAlaMetGlyAspAlaGlyProArgGlyProThrGlyIleGluGlyPheProGlyProProGlyLeuProGlyAlaIleIleProGlyGlnThrGlyAsnArgGlyProProGlySerArgGlySerProGlyAlaProGlyProProGlyProProGlySerHisValIleGlyIleLysGlyAspLysGlySerMetGlyHisProGlyProLysGlyProProGlyThrAlaGlyAspMetGlyProProGlyArgLeuGlyAlaProGlyThrProGlyLeuProGlyProArgGlyAspProGlyPheGlnGlyPheProGlyValLysGlyGluLysGlyAsnProGlyPheLeuGlySerIleGlyProProGlyProIleGlyProLysGlyProProGlyValArgGlyAspProGlyThrLeuLysIleIleSerLeuProGlySerProGlyProProGlyThrProGlyGluProGlyMetGlnGlyGluProGlyProProGlyProProGlyAsnLeuGlyProCysGlyProArgGlyLysProGlyLysAspGlyLysProGlyThrProGlyProAlaGlyGluLysGlyAsnLysGlySerLysGlyGluProGlyProAlaGlySerAspGlyLeuProGlyLeuLysGlyLysArgGlyAspSerGlySerProAlaThrTrpThrThrArgGlyPheValPheThrArgHisSerGlnThrThrAlaIleProSerCysProGluGlyThrValProLeuTyrSerGlyPheSerPheLeuPheValGlnGlyAsnGlnArgAlaHisGlyGlnAspLeuGlyThrLeuGlySerCysLeuGlnArgPheThrThrMetProPheLeuPheCysAsnValAsnAspValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProAlaLeuMetProMetAsnMetAlaProIleThrGlyArgAlaLeuGluProTyrIleSerArgCysThrValCysGluGlyProAlaIleAlaIleAlaValHisSerGlnThrThrAspIleProProCysProHisGlyTrpIleSerLeuTrpLysGlyPheSerPheIleMetPheThrSerAlaGlySerGluGlyThrGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgAlaSerProPheLeuGluCysHisGlyArgGlyThrCysAsnTyrTyrSerAsnSerTyrSerPheTrpLeuAlaSerLeuAsnProGluArgMetPheArgLysProIleProSerThrValLysAlaGlyGluLeuGluLysIleIleSerArgCysGlnValCysMetLysLysArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006155"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 243,
          "endIntronDirection": "-",
          "endIntronOffset": 724,
          "referenceAllele": "C",
          "start": 243,
          "startIntronDirection": "-",
          "startIntronOffset": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN041067",
      "geneNCBI_id": 654841,
      "geneSymbol": "MFF-DT",
      "hgvs": [
        "NR_102371.1:n.244-725C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052797"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2776,
          "referenceAllele": "G",
          "start": 2775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_005246276.2:c.2638G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246333.1:p.Gly880Ter",
        "hgvsWellDefined": "XP_005246333.1:p.Gly880_Ile1637delinsIleLeuGlyProProGlyGluAspGlyValIleGlyMetMetGlyPheProGlyAlaIleGlyProProGlyProProGlyAsnProGlyThrProGlyGlnArgGlySerProGlyIleProGlyValLysGlyGlnArgGlyThrProGlyAlaLysGlyGluGlnGlyAspLysGlyAsnProGlyProSerGluIleSerHisValIleGlyAspLysGlyGluProGlyLeuLysGlyPheAlaGlyAsnProGlyGluLysGlyAsnArgGlyValProGlyMetProGlyLeuLysGlyLeuLysGlyLeuProGlyProAlaGlyProProGlyProArgGlyAspLeuGlySerThrGlyAsnProGlyGluProGlyLeuArgGlyIleProGlySerMetGlyAsnMetGlyMetProGlySerLysGlyLysArgGlyThrLeuGlyPheProGlyArgAlaGlyArgProGlyLeuProGlyIleHisGlyLeuGlnGlyAspLysGlyGluProGlyTyrSerGluGlyThrArgProGlyProProGlyProThrGlyAspProGlyLeuProGlyAspMetGlyLysLysGlyGluMetGlyGlnProGlyProProGlyHisLeuGlyProAlaGlyProGluGlyAlaProGlySerProGlySerProGlyLeuProGlyLysProGlyProHisGlyAspLeuGlyPheLysGlyIleLysGlyLeuLeuGlyProProGlyIleArgGlyProProGlyLeuProGlyPheProGlySerProGlyProMetGlyIleArgGlyAspGlnGlyArgAspGlyIleProGlyProAlaGlyGluLysGlyGluThrGlyLeuLeuArgAlaProProGlyProArgGlyAsnProGlyAlaGlnGlyAlaLysGlyAspArgGlyAlaProGlyPheProGlyLeuProGlyArgLysGlyAlaMetGlyAspAlaGlyProArgGlyProThrGlyIleGluGlyPheProGlyProProGlyLeuProGlyAlaIleIleProGlyGlnThrGlyAsnArgGlyProProGlySerArgGlySerProGlyAlaProGlyProProGlyProProGlySerHisValIleGlyIleLysGlyAspLysGlySerMetGlyHisProGlyProLysGlyProProGlyThrAlaGlyAspMetGlyProProGlyArgLeuGlyAlaProGlyThrProGlyLeuProGlyProArgGlyAspProGlyPheGlnGlyPheProGlyValLysGlyGluLysGlyAsnProGlyPheLeuGlySerIleGlyProProGlyProIleGlyProLysGlyProProGlyValArgGlyAspProGlyThrLeuLysIleIleSerLeuProGlySerProGlyProProGlyThrProGlyGluProGlyMetGlnGlyGluProGlyProProGlyProProGlyAsnLeuGlyProCysGlyProArgGlyLysProGlyLysAspGlyLysProGlyThrProGlyProAlaGlyGluLysGlyAsnLysGlySerLysGlyGluProGlyProAlaGlySerAspGlyLeuProGlyLeuLysGlyLysArgGlyAspSerGlySerProAlaThrTrpThrThrArgGlyPheValPheThrArgHisSerGlnThrThrAlaIleProSerCysProGluGlyThrValProLeuTyrSerGlyPheSerPheLeuPheValGlnGlyAsnGlnArgAlaHisGlyGlnAspLeuGlyThrLeuGlySerCysLeuGlnArgPheThrThrMetProPheLeuPheCysAsnValAsnAspValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProAlaLeuMetProMetAsnMetAlaProIleThrGlyArgAlaLeuGluProTyrIleSerArgCysThrValCysGluGlyProAlaIleAlaIleAlaValHisSerGlnThrThrAspIleProProCysProHisGlyTrpIleSerLeuTrpLysGlyPheSerPheIleMetLysAlaTyrSerIleAsnCysGluSerTrpGlyIleArgLysAsnAsnLysSerLeuSerGlyValHisGluGluLysThrLeuLysLeuLysLysThrAlaGluLeuLeuPhePheIleLeuLysAsnLysValMetThrGluHisAlaValIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057548"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2671,
          "referenceAllele": "G",
          "start": 2670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_005246277.2:c.2533G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246334.1:p.Gly845Ter",
        "hgvsWellDefined": "XP_005246334.1:p.Gly845_His1635delinsIleLeuGlyProProGlyGluAspGlyValIleGlyMetMetGlyPheProGlyAlaIleGlyProProGlyProProGlyAsnProGlyThrProGlyGlnArgGlySerProGlyIleProGlyValLysGlyGlnArgGlyThrProGlyAlaLysGlyGluGlnGlyAspLysGlyAsnProGlyProSerGluIleSerHisValIleGlyAspLysGlyGluProGlyLeuLysGlyPheAlaGlyAsnProGlyGluLysGlyAsnArgGlyValProGlyMetProGlyLeuLysGlyLeuLysGlyLeuProGlyProAlaGlyProProGlyProArgGlyAspLeuGlySerThrGlyAsnProGlyGluProGlyLeuArgGlyIleProGlySerMetGlyAsnMetGlyMetProGlySerLysGlyLysArgGlyThrLeuGlyPheProGlyArgAlaGlyArgProGlyLeuProGlyIleHisGlyLeuGlnGlyAspLysGlyGluProGlyTyrSerGluGlyThrArgProGlyProProGlyProThrGlyAspProGlyLeuProGlyAspMetGlyLysLysGlyGluMetGlyGlnProGlyProProGlyHisLeuGlyProAlaGlyProGluGlyAlaProGlySerProGlySerProGlyLeuProGlyLysProGlyProHisGlyAspLeuGlyPheLysGlyIleLysGlyLeuLeuGlyProProGlyIleArgGlyProProGlyLeuProGlyPheProGlySerProGlyProMetGlyIleArgGlyAspGlnGlyArgAspGlyIleProGlyProAlaGlyGluLysGlyGluThrGlyLeuLeuArgAlaProProGlyProArgGlyAsnProGlyAlaGlnGlyAlaLysGlyAspArgGlyAlaProGlyPheProGlyLeuProGlyArgLysGlyAlaMetGlyAspAlaGlyProArgGlyProThrGlyIleGluGlyPheProGlyProProGlyLeuProGlyAlaIleIleProGlyGlnThrGlyAsnArgGlyProProGlySerArgGlySerProGlyAlaProGlyProProGlyProProGlySerHisValIleGlyIleLysGlyAspLysGlySerMetGlyHisProGlyProLysGlyProProGlyThrAlaGlyAspMetGlyProProGlyArgLeuGlyAlaProGlyThrProGlyLeuProGlyProArgGlyAspProGlyPheGlnGlyPheProGlyValLysGlyGluLysGlyAsnProGlyPheLeuGlySerIleGlyProProGlyProIleGlyProLysGlyProProGlyValArgGlyAspProGlyThrLeuLysIleIleSerLeuProGlySerProGlyProProGlyThrProGlyGluProGlyMetGlnGlyGluProGlyProProGlyProProGlyAsnLeuGlyProCysGlyProArgGlyLysProGlyLysAspGlyLysProGlyThrProGlyProAlaGlyGluLysGlyAsnLysGlySerLysGlyGluProGlyProAlaGlySerAspGlyLeuProGlyLeuLysGlyLysArgGlyAspSerGlySerProAlaThrTrpThrThrArgGlyPheValPheThrArgHisSerGlnThrThrAlaIleProSerCysProGluGlyThrValProLeuTyrSerGlyPheSerPheLeuPheValGlnGlyAsnGlnArgAlaHisGlyGlnAspLeuGlyThrLeuGlySerCysLeuGlnArgPheThrThrMetProPheLeuPheCysAsnValAsnAspValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProAlaLeuMetProMetAsnMetAlaProIleThrGlyArgAlaLeuGluProTyrIleSerArgCysThrValCysGluGlyProAlaIleAlaIleAlaValHisSerGlnThrThrAspIleProProCysProHisGlyTrpIleSerLeuTrpLysGlyPheSerPheIleMetPheThrSerAlaGlySerGluGlyThrGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgAlaSerProPheLeuGluCysHisGlyArgGlyThrCysAsnTyrTyrSerAsnSerTyrSerPheTrpLeuAlaSerLeuAsnProGluArgMetPheArgLysProIleProSerThrValLysAlaGlyGluLeuGluLysIleIleSerArgCysGlnValCysMetLysLysArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057549"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2776,
          "referenceAllele": "G",
          "start": 2775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_005246280.2:c.2638G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246337.1:p.Gly880Ter",
        "hgvsWellDefined": "XP_005246337.1:p.Gly880_Gly1051delinsIleLeuGlyProProGlyGluAspGlyValIleGlyMetMetGlyPheProGlyAlaIleGlyProProGlyProProGlyAsnProGlyThrProGlyGlnArgGlySerProGlyIleProGlyValLysGlyGlnArgGlyThrProGlyAlaLysGlyGluGlnGlyAspLysGlyAsnProGlyProSerGluIleSerHisValIleGlyAspLysGlyGluProGlyLeuLysGlyPheAlaGlyAsnProGlyGluLysGlyAsnArgGlyValProGlyMetProGlyLeuLysGlyLeuLysGlyLeuProGlyProAlaGlyProProGlyProArgGlyAspLeuGlySerThrGlyAsnProGlyGluProGlyLeuArgGlyIleProGlySerMetGlyAsnMetGlyMetProGlySerLysGlyLysArgGlyThrLeuGlyPheProGlyArgAlaGlyArgProGlyLeuProGlyGlySerArgThrAlaGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057550"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2776,
          "referenceAllele": "G",
          "start": 2775
        }
      ],
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      "geneNCBI_id": 1285,
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        "hgvsWellDefined": "XP_006712308.1:p.Gly880_Gly1189delinsIleLeuGlyProProGlyGluAspGlyValIleGlyMetMetGlyPheProGlyAlaIleGlyProProGlyProProGlyAsnProGlyThrProGlyGlnArgGlySerProGlyIleProGlyValLysGlyGlnArgGlyThrProGlyAlaLysGlyGluGlnGlyAspLysGlyAsnProGlyProSerGluIleSerHisValIleGlyAspLysGlyGluProGlyLeuLysGlyPheAlaGlyAsnProGlyGluLysGlyAsnArgGlyValProGlyMetProGlyLeuLysGlyLeuLysGlyLeuProGlyProAlaGlyProProGlyProArgGlyAspLeuGlySerThrGlyAsnProGlyGluProGlyLeuArgGlyIleProGlySerMetGlyAsnMetGlyMetProGlySerLysGlyLysArgGlyThrLeuGlyPheProGlyArgAlaGlyArgProGlyLeuProGlyIleHisGlyLeuGlnGlyAspLysGlyGluProGlyTyrSerGluGlyThrArgProGlyProProGlyProThrGlyAspProGlyLeuProGlyAspMetGlyLysLysGlyGluMetGlyGlnProGlyProProGlyHisLeuGlyProAlaGlyProGluGlyAlaProGlySerProGlySerProGlyLeuProGlyLysProGlyProHisGlyAspLeuGlyPheLysGlyIleLysGlyLeuLeuGlyProProGlyIleArgGlyProProGlyLeuProGlyPheProGlySerProGlyProMetGlyIleArgGlyAspGlnGlyArgAspGlyIleProGlyProAlaGlyGluLysGlyGluThrGlyLeuLeuArgAlaProProGlyProArgGlyAsnProGlyAlaGlnGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069540"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2776,
          "referenceAllele": "G",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077818"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1832,
          "referenceAllele": "G",
          "start": 1831
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      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077819"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2776,
          "referenceAllele": "G",
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        }
      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS116013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2671,
          "referenceAllele": "G",
          "start": 2670
        }
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      "gene": "http://reg.genome.network/gene/GN002204",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532574"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2776,
          "referenceAllele": "G",
          "start": 2775
        }
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532575"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538213"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1832,
          "referenceAllele": "G",
          "start": 1831
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541765"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2776,
          "referenceAllele": "G",
          "start": 2775
        }
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559066"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      ],
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS589090"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      ],
      "gene": "http://reg.genome.network/gene/GN002204",
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      "hgvs": [
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      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605830"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499228190",
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "G",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
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      "hgvs": [
        "NM_000091.5:c.2638G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000082.2:p.Gly880Ter",
        "hgvsWellDefined": "NP_000082.2:p.Gly880_His1670delinsIleLeuGlyProProGlyGluAspGlyValIleGlyMetMetGlyPheProGlyAlaIleGlyProProGlyProProGlyAsnProGlyThrProGlyGlnArgGlySerProGlyIleProGlyValLysGlyGlnArgGlyThrProGlyAlaLysGlyGluGlnGlyAspLysGlyAsnProGlyProSerGluIleSerHisValIleGlyAspLysGlyGluProGlyLeuLysGlyPheAlaGlyAsnProGlyGluLysGlyAsnArgGlyValProGlyMetProGlyLeuLysGlyLeuLysGlyLeuProGlyProAlaGlyProProGlyProArgGlyAspLeuGlySerThrGlyAsnProGlyGluProGlyLeuArgGlyIleProGlySerMetGlyAsnMetGlyMetProGlySerLysGlyLysArgGlyThrLeuGlyPheProGlyArgAlaGlyArgProGlyLeuProGlyIleHisGlyLeuGlnGlyAspLysGlyGluProGlyTyrSerGluGlyThrArgProGlyProProGlyProThrGlyAspProGlyLeuProGlyAspMetGlyLysLysGlyGluMetGlyGlnProGlyProProGlyHisLeuGlyProAlaGlyProGluGlyAlaProGlySerProGlySerProGlyLeuProGlyLysProGlyProHisGlyAspLeuGlyPheLysGlyIleLysGlyLeuLeuGlyProProGlyIleArgGlyProProGlyLeuProGlyPheProGlySerProGlyProMetGlyIleArgGlyAspGlnGlyArgAspGlyIleProGlyProAlaGlyGluLysGlyGluThrGlyLeuLeuArgAlaProProGlyProArgGlyAsnProGlyAlaGlnGlyAlaLysGlyAspArgGlyAlaProGlyPheProGlyLeuProGlyArgLysGlyAlaMetGlyAspAlaGlyProArgGlyProThrGlyIleGluGlyPheProGlyProProGlyLeuProGlyAlaIleIleProGlyGlnThrGlyAsnArgGlyProProGlySerArgGlySerProGlyAlaProGlyProProGlyProProGlySerHisValIleGlyIleLysGlyAspLysGlySerMetGlyHisProGlyProLysGlyProProGlyThrAlaGlyAspMetGlyProProGlyArgLeuGlyAlaProGlyThrProGlyLeuProGlyProArgGlyAspProGlyPheGlnGlyPheProGlyValLysGlyGluLysGlyAsnProGlyPheLeuGlySerIleGlyProProGlyProIleGlyProLysGlyProProGlyValArgGlyAspProGlyThrLeuLysIleIleSerLeuProGlySerProGlyProProGlyThrProGlyGluProGlyMetGlnGlyGluProGlyProProGlyProProGlyAsnLeuGlyProCysGlyProArgGlyLysProGlyLysAspGlyLysProGlyThrProGlyProAlaGlyGluLysGlyAsnLysGlySerLysGlyGluProGlyProAlaGlySerAspGlyLeuProGlyLeuLysGlyLysArgGlyAspSerGlySerProAlaThrTrpThrThrArgGlyPheValPheThrArgHisSerGlnThrThrAlaIleProSerCysProGluGlyThrValProLeuTyrSerGlyPheSerPheLeuPheValGlnGlyAsnGlnArgAlaHisGlyGlnAspLeuGlyThrLeuGlySerCysLeuGlnArgPheThrThrMetProPheLeuPheCysAsnValAsnAspValCysAsnPheAlaSerArgAsnAspTyrSerTyrTrpLeuSerThrProAlaLeuMetProMetAsnMetAlaProIleThrGlyArgAlaLeuGluProTyrIleSerArgCysThrValCysGluGlyProAlaIleAlaIleAlaValHisSerGlnThrThrAspIleProProCysProHisGlyTrpIleSerLeuTrpLysGlyPheSerPheIleMetPheThrSerAlaGlySerGluGlyThrGlyGlnAlaLeuAlaSerProGlySerCysLeuGluGluPheArgAlaSerProPheLeuGluCysHisGlyArgGlyThrCysAsnTyrTyrSerAsnSerTyrSerPheTrpLeuAlaSerLeuAsnProGluArgMetPheArgLysProIleProSerThrValLysAlaGlyGluLeuGluLysIleIleSerArgCysGlnValCysMetLysLysArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674698",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396578.8:c.2638G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000091.5:c.2638G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379823.3:p.Gly880Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000082.2:p.Gly880Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}