{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2143993",
  "communityStandardTitle": [
    "NM_000092.5(COL4A4):c.5044C>T (p.Arg1682Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=541860[alleleid]",
        "alleleId": 541860,
        "preferredName": "NM_000092.5(COL4A4):c.5044C>T (p.Arg1682Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/552827",
        "RCV": [
          "RCV000668165",
          "RCV000735753",
          "RCV002493098",
          "RCV002530738"
        ],
        "variationId": 552827
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-227872070-G-A",
        "id": "2-227872070-G-A",
        "variant": "2:227872070 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.227872070G>A?assembly=hg19",
        "id": "chr2:g.227872070G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.227007354G>A?assembly=hg38",
        "id": "chr2:g.227007354G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/766550724",
        "rs": 766550724
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-227872070-G-A?dataset=gnomad_r2_1",
        "id": "2-227872070-G-A",
        "variant": "2:227872070 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-227007354-G-A?dataset=gnomad_r3",
        "id": "2-227007354-G-A",
        "variant": "2:227007354 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-227007354-G-A?dataset=gnomad_r4",
        "id": "2-227007354-G-A",
        "variant": "2:227007354 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 227007354,
          "referenceAllele": "G",
          "start": 227007353
        }
      ],
      "hgvs": [
        "NC_000002.12:g.227007354G>A",
        "CM000664.2:g.227007354G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 227872070,
          "referenceAllele": "G",
          "start": 227872069
        }
      ],
      "hgvs": [
        "NC_000002.11:g.227872070G>A",
        "CM000664.1:g.227872070G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 227580314,
          "referenceAllele": "G",
          "start": 227580313
        }
      ],
      "hgvs": [
        "NC_000002.10:g.227580314G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 162206,
          "referenceAllele": "C",
          "start": 162205
        }
      ],
      "hgvs": [
        "NG_011592.1:g.162206C>T",
        "LRG_231:g.162206C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001840"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 646,
          "referenceAllele": "C",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "ENST00000682098.1:c.646C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508331.1:p.Arg216Trp",
        "hgvsWellDefined": "ENSP00000508331.1:p.Arg216Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827095"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5344,
          "referenceAllele": "C",
          "start": 5343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "ENST00000396625.5:c.5044C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379866.3:p.Arg1682Trp",
        "hgvsWellDefined": "ENSP00000379866.3:p.Arg1682Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753543",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396625.5:c.5044C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000092.5:c.5044C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379866.3:p.Arg1682Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000083.3:p.Arg1682Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5252,
          "referenceAllele": "C",
          "start": 5251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "ENST00000396625.3:c.5044C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379866.3:p.Arg1682Trp",
        "hgvsWellDefined": "ENSP00000379866.3:p.Arg1682Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277360"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658827590",
      "coordinates": [
        {
          "allele": "T",
          "end": 5698,
          "referenceAllele": "C",
          "start": 5697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "NM_000092.4:c.5044C>T",
        "LRG_231t1:c.5044C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000083.3:p.Arg1682Trp",
        "hgvsWellDefined": "NP_000083.3:p.Arg1682Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006156"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5229,
          "referenceAllele": "C",
          "start": 5228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_005246281.2:c.5044C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246338.1:p.Arg1682Trp",
        "hgvsWellDefined": "XP_005246338.1:p.Arg1682Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057551"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4799,
          "referenceAllele": "C",
          "start": 4798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_005246282.2:c.4489C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246339.1:p.Arg1497Trp",
        "hgvsWellDefined": "XP_005246339.1:p.Arg1497Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057552"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5165,
          "referenceAllele": "C",
          "start": 5164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_006712246.2:c.4855C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712309.1:p.Arg1619Trp",
        "hgvsWellDefined": "XP_006712309.1:p.Arg1619Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069541"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5119,
          "endIntronDirection": "+",
          "endIntronOffset": 664,
          "referenceAllele": "C",
          "start": 5119,
          "startIntronDirection": "+",
          "startIntronOffset": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_006712249.2:c.4809+664C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712312.1:n.4809+664C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069542"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4526,
          "endIntronDirection": "+",
          "endIntronOffset": 14694,
          "referenceAllele": "C",
          "start": 4526,
          "startIntronDirection": "+",
          "startIntronOffset": 14693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_006712252.2:c.4216+14694C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712315.1:n.4216+14694C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069544"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5273,
          "referenceAllele": "C",
          "start": 5272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510557.1:c.4963C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508859.1:p.Arg1655Trp",
        "hgvsWellDefined": "XP_011508859.1:p.Arg1655Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077820"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5246,
          "referenceAllele": "C",
          "start": 5245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510558.1:c.4936C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508860.1:p.Arg1646Trp",
        "hgvsWellDefined": "XP_011508860.1:p.Arg1646Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077821"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5119,
          "endIntronDirection": "+",
          "endIntronOffset": 664,
          "referenceAllele": "C",
          "start": 5119,
          "startIntronDirection": "+",
          "startIntronOffset": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510559.1:c.4809+664C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508861.1:n.4809+664C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077822"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5119,
          "endIntronDirection": "+",
          "endIntronOffset": 664,
          "referenceAllele": "C",
          "start": 5119,
          "startIntronDirection": "+",
          "startIntronOffset": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510560.1:c.4809+664C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508862.1:n.4809+664C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077823"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5119,
          "endIntronDirection": "+",
          "endIntronOffset": 664,
          "referenceAllele": "C",
          "start": 5119,
          "startIntronDirection": "+",
          "startIntronOffset": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510561.1:c.4809+664C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508863.1:n.4809+664C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077824"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5119,
          "endIntronDirection": "+",
          "endIntronOffset": 664,
          "referenceAllele": "C",
          "start": 5119,
          "startIntronDirection": "+",
          "startIntronOffset": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510562.1:c.4809+664C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508864.1:n.4809+664C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077825"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4526,
          "endIntronDirection": "+",
          "endIntronOffset": 14694,
          "referenceAllele": "C",
          "start": 4526,
          "startIntronDirection": "+",
          "startIntronOffset": 14693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510565.1:c.4216+14694C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508867.1:n.4216+14694C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077828"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4526,
          "endIntronDirection": "+",
          "endIntronOffset": 14694,
          "referenceAllele": "C",
          "start": 4526,
          "startIntronDirection": "+",
          "startIntronOffset": 14693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510566.1:c.4216+14694C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508868.1:n.4216+14694C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077829"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4526,
          "endIntronDirection": "+",
          "endIntronOffset": 14694,
          "referenceAllele": "C",
          "start": 4526,
          "startIntronDirection": "+",
          "startIntronOffset": 14693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510567.1:c.4216+14694C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508869.1:n.4216+14694C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077830"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4526,
          "endIntronDirection": "+",
          "endIntronOffset": 14694,
          "referenceAllele": "C",
          "start": 4526,
          "startIntronDirection": "+",
          "startIntronOffset": 14693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510569.1:c.4216+14694C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508871.1:n.4216+14694C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4526,
          "endIntronDirection": "+",
          "endIntronOffset": 14694,
          "referenceAllele": "C",
          "start": 4526,
          "startIntronDirection": "+",
          "startIntronOffset": 14693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510570.1:c.4216+14694C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508872.1:n.4216+14694C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077833"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4526,
          "endIntronDirection": "+",
          "endIntronOffset": 14694,
          "referenceAllele": "C",
          "start": 4526,
          "startIntronDirection": "+",
          "startIntronOffset": 14693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510571.1:c.4216+14694C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508873.1:n.4216+14694C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077834"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3582,
          "referenceAllele": "C",
          "start": 3581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510572.1:c.3370C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508874.1:p.Arg1124Trp",
        "hgvsWellDefined": "XP_011508874.1:p.Arg1124Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077835"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5119,
          "endIntronDirection": "+",
          "endIntronOffset": 664,
          "referenceAllele": "C",
          "start": 5119,
          "startIntronDirection": "+",
          "startIntronOffset": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XR_922837.1:n.5119+664C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS119899"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5119,
          "endIntronDirection": "+",
          "endIntronOffset": 664,
          "referenceAllele": "C",
          "start": 5119,
          "startIntronDirection": "+",
          "startIntronOffset": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XR_922838.1:n.5119+664C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS119900"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4526,
          "endIntronDirection": "+",
          "endIntronOffset": 14694,
          "referenceAllele": "C",
          "start": 4526,
          "startIntronDirection": "+",
          "startIntronOffset": 14693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XR_922839.1:n.4526+14694C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS119901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4526,
          "endIntronDirection": "+",
          "endIntronOffset": 14694,
          "referenceAllele": "C",
          "start": 4526,
          "startIntronDirection": "+",
          "startIntronOffset": 14693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XR_922840.1:n.4526+14694C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS119902"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5232,
          "referenceAllele": "C",
          "start": 5231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_005246281.3:c.5044C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246338.1:p.Arg1682Trp",
        "hgvsWellDefined": "XP_005246338.1:p.Arg1682Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532576"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4815,
          "referenceAllele": "C",
          "start": 4814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_005246282.3:c.4489C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246339.1:p.Arg1497Trp",
        "hgvsWellDefined": "XP_005246339.1:p.Arg1497Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532577"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5181,
          "referenceAllele": "C",
          "start": 5180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_006712246.3:c.4855C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712309.1:p.Arg1619Trp",
        "hgvsWellDefined": "XP_006712309.1:p.Arg1619Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538214"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5289,
          "referenceAllele": "C",
          "start": 5288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510557.2:c.4963C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508859.1:p.Arg1655Trp",
        "hgvsWellDefined": "XP_011508859.1:p.Arg1655Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541766"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5262,
          "referenceAllele": "C",
          "start": 5261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510558.2:c.4936C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508860.1:p.Arg1646Trp",
        "hgvsWellDefined": "XP_011508860.1:p.Arg1646Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5135,
          "endIntronDirection": "+",
          "endIntronOffset": 664,
          "referenceAllele": "C",
          "start": 5135,
          "startIntronDirection": "+",
          "startIntronOffset": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510559.2:c.4809+664C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508861.1:n.4809+664C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541768"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5135,
          "endIntronDirection": "+",
          "endIntronOffset": 664,
          "referenceAllele": "C",
          "start": 5135,
          "startIntronDirection": "+",
          "startIntronOffset": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510560.2:c.4809+664C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508862.1:n.4809+664C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541769"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5135,
          "endIntronDirection": "+",
          "endIntronOffset": 664,
          "referenceAllele": "C",
          "start": 5135,
          "startIntronDirection": "+",
          "startIntronOffset": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510561.2:c.4809+664C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508863.1:n.4809+664C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541770"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5135,
          "endIntronDirection": "+",
          "endIntronOffset": 664,
          "referenceAllele": "C",
          "start": 5135,
          "startIntronDirection": "+",
          "startIntronOffset": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510562.2:c.4809+664C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508864.1:n.4809+664C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541771"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4542,
          "endIntronDirection": "+",
          "endIntronOffset": 14694,
          "referenceAllele": "C",
          "start": 4542,
          "startIntronDirection": "+",
          "startIntronOffset": 14693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510565.2:c.4216+14694C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508867.1:n.4216+14694C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541772"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4542,
          "endIntronDirection": "+",
          "endIntronOffset": 14694,
          "referenceAllele": "C",
          "start": 4542,
          "startIntronDirection": "+",
          "startIntronOffset": 14693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510566.2:c.4216+14694C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508868.1:n.4216+14694C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541773"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4542,
          "endIntronDirection": "+",
          "endIntronOffset": 14694,
          "referenceAllele": "C",
          "start": 4542,
          "startIntronDirection": "+",
          "startIntronOffset": 14693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510567.2:c.4216+14694C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508869.1:n.4216+14694C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541774"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4542,
          "endIntronDirection": "+",
          "endIntronOffset": 14694,
          "referenceAllele": "C",
          "start": 4542,
          "startIntronDirection": "+",
          "startIntronOffset": 14693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510569.2:c.4216+14694C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508871.1:n.4216+14694C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541776"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4542,
          "endIntronDirection": "+",
          "endIntronOffset": 14694,
          "referenceAllele": "C",
          "start": 4542,
          "startIntronDirection": "+",
          "startIntronOffset": 14693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510570.2:c.4216+14694C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508872.1:n.4216+14694C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541777"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3598,
          "referenceAllele": "C",
          "start": 3597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510572.3:c.3370C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508874.1:p.Arg1124Trp",
        "hgvsWellDefined": "XP_011508874.1:p.Arg1124Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541778"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5253,
          "referenceAllele": "C",
          "start": 5252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_017003297.1:c.4927C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016858786.1:p.Arg1643Trp",
        "hgvsWellDefined": "XP_016858786.1:p.Arg1643Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559068"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5135,
          "endIntronDirection": "+",
          "endIntronOffset": 664,
          "referenceAllele": "C",
          "start": 5135,
          "startIntronDirection": "+",
          "startIntronOffset": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_017003298.1:c.4809+664C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016858787.1:n.4809+664C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559069"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4542,
          "endIntronDirection": "+",
          "endIntronOffset": 14694,
          "referenceAllele": "C",
          "start": 4542,
          "startIntronDirection": "+",
          "startIntronOffset": 14693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_017003300.1:c.4216+14694C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016858789.1:n.4216+14694C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559071"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5135,
          "endIntronDirection": "+",
          "endIntronOffset": 664,
          "referenceAllele": "C",
          "start": 5135,
          "startIntronDirection": "+",
          "startIntronOffset": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XR_001738602.1:n.5135+664C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589091"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5135,
          "endIntronDirection": "+",
          "endIntronOffset": 664,
          "referenceAllele": "C",
          "start": 5135,
          "startIntronDirection": "+",
          "startIntronOffset": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XR_001738603.1:n.5135+664C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589092"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5116,
          "referenceAllele": "C",
          "start": 5115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XR_001738604.1:n.5116C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589093"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4542,
          "endIntronDirection": "+",
          "endIntronOffset": 14694,
          "referenceAllele": "C",
          "start": 4542,
          "startIntronDirection": "+",
          "startIntronOffset": 14693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XR_001738606.1:n.4542+14694C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589094"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4542,
          "endIntronDirection": "+",
          "endIntronOffset": 14694,
          "referenceAllele": "C",
          "start": 4542,
          "startIntronDirection": "+",
          "startIntronOffset": 14693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XR_001738607.1:n.4542+14694C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589095"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5135,
          "endIntronDirection": "+",
          "endIntronOffset": 664,
          "referenceAllele": "C",
          "start": 5135,
          "startIntronDirection": "+",
          "startIntronOffset": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XR_922837.2:n.5135+664C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607167"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658827590",
      "coordinates": [
        {
          "allele": "T",
          "end": 5344,
          "referenceAllele": "C",
          "start": 5343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "NM_000092.5:c.5044C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000083.3:p.Arg1682Trp",
        "hgvsWellDefined": "NP_000083.3:p.Arg1682Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674699",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396625.5:c.5044C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000092.5:c.5044C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379866.3:p.Arg1682Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000083.3:p.Arg1682Trp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}