{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2144076",
  "communityStandardTitle": [
    "NM_000092.5(COL4A4):c.4760C>T (p.Pro1587Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=440656[alleleid]",
        "alleleId": 440656,
        "preferredName": "NM_000092.5(COL4A4):c.4760C>T (p.Pro1587Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/447190",
        "RCV": [
          "RCV000517177",
          "RCV002481669",
          "RCV001834659",
          "RCV002510911",
          "RCV004535674"
        ],
        "variationId": 447190
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-227872783-G-A",
        "id": "2-227872783-G-A",
        "variant": "2:227872783 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.227872783G>A?assembly=hg19",
        "id": "chr2:g.227872783G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.227008067G>A?assembly=hg38",
        "id": "chr2:g.227008067G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/190148408",
        "rs": 190148408
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-227872783-G-A?dataset=gnomad_r2_1",
        "id": "2-227872783-G-A",
        "variant": "2:227872783 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-227008067-G-A?dataset=gnomad_r3",
        "id": "2-227008067-G-A",
        "variant": "2:227008067 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-227008067-G-A?dataset=gnomad_r4",
        "id": "2-227008067-G-A",
        "variant": "2:227008067 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 227008067,
          "referenceAllele": "G",
          "start": 227008066
        }
      ],
      "hgvs": [
        "NC_000002.12:g.227008067G>A",
        "CM000664.2:g.227008067G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 227872783,
          "referenceAllele": "G",
          "start": 227872782
        }
      ],
      "hgvs": [
        "NC_000002.11:g.227872783G>A",
        "CM000664.1:g.227872783G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 227581027,
          "referenceAllele": "G",
          "start": 227581026
        }
      ],
      "hgvs": [
        "NC_000002.10:g.227581027G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 161493,
          "referenceAllele": "C",
          "start": 161492
        }
      ],
      "hgvs": [
        "NG_011592.1:g.161493C>T",
        "LRG_231:g.161493C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001840"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 362,
          "referenceAllele": "C",
          "start": 361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "ENST00000682098.1:c.362C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508331.1:p.Pro121Leu",
        "hgvsWellDefined": "ENSP00000508331.1:p.Pro121Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827095"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5060,
          "referenceAllele": "C",
          "start": 5059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "ENST00000396625.5:c.4760C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379866.3:p.Pro1587Leu",
        "hgvsWellDefined": "ENSP00000379866.3:p.Pro1587Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753543",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396625.5:c.4760C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000092.5:c.4760C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379866.3:p.Pro1587Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000083.3:p.Pro1587Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4968,
          "referenceAllele": "C",
          "start": 4967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "ENST00000396625.3:c.4760C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379866.3:p.Pro1587Leu",
        "hgvsWellDefined": "ENSP00000379866.3:p.Pro1587Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277360"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658664230",
      "coordinates": [
        {
          "allele": "T",
          "end": 5414,
          "referenceAllele": "C",
          "start": 5413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "NM_000092.4:c.4760C>T",
        "LRG_231t1:c.4760C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000083.3:p.Pro1587Leu",
        "hgvsWellDefined": "NP_000083.3:p.Pro1587Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006156"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4945,
          "referenceAllele": "C",
          "start": 4944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_005246281.2:c.4760C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246338.1:p.Pro1587Leu",
        "hgvsWellDefined": "XP_005246338.1:p.Pro1587Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057551"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4515,
          "referenceAllele": "C",
          "start": 4514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_005246282.2:c.4205C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246339.1:p.Pro1402Leu",
        "hgvsWellDefined": "XP_005246339.1:p.Pro1402Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057552"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4881,
          "referenceAllele": "C",
          "start": 4880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_006712246.2:c.4571C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712309.1:p.Pro1524Leu",
        "hgvsWellDefined": "XP_006712309.1:p.Pro1524Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069541"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5070,
          "referenceAllele": "C",
          "start": 5069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_006712249.2:c.4760C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712312.1:p.Pro1587Leu",
        "hgvsWellDefined": "XP_006712312.1:p.Pro1587Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069542"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4526,
          "endIntronDirection": "+",
          "endIntronOffset": 13981,
          "referenceAllele": "C",
          "start": 4526,
          "startIntronDirection": "+",
          "startIntronOffset": 13980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_006712252.2:c.4216+13981C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712315.1:n.4216+13981C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069544"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4989,
          "referenceAllele": "C",
          "start": 4988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510557.1:c.4679C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508859.1:p.Pro1560Leu",
        "hgvsWellDefined": "XP_011508859.1:p.Pro1560Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077820"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4962,
          "referenceAllele": "C",
          "start": 4961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510558.1:c.4652C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508860.1:p.Pro1551Leu",
        "hgvsWellDefined": "XP_011508860.1:p.Pro1551Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077821"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5070,
          "referenceAllele": "C",
          "start": 5069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510559.1:c.4760C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508861.1:p.Pro1587Leu",
        "hgvsWellDefined": "XP_011508861.1:p.Pro1587Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077822"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5070,
          "referenceAllele": "C",
          "start": 5069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510560.1:c.4760C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508862.1:p.Pro1587Leu",
        "hgvsWellDefined": "XP_011508862.1:p.Pro1587Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077823"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5070,
          "referenceAllele": "C",
          "start": 5069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510561.1:c.4760C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508863.1:p.Pro1587Leu",
        "hgvsWellDefined": "XP_011508863.1:p.Pro1587Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077824"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5070,
          "referenceAllele": "C",
          "start": 5069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510562.1:c.4760C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508864.1:p.Pro1587Leu",
        "hgvsWellDefined": "XP_011508864.1:p.Pro1587Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077825"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4816,
          "referenceAllele": "C",
          "start": 4815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510563.1:c.*93C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508865.1:n.*93C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077826"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4699,
          "referenceAllele": "C",
          "start": 4698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510564.1:c.*93C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508866.1:n.*93C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077827"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4526,
          "endIntronDirection": "+",
          "endIntronOffset": 13981,
          "referenceAllele": "C",
          "start": 4526,
          "startIntronDirection": "+",
          "startIntronOffset": 13980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510565.1:c.4216+13981C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508867.1:n.4216+13981C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077828"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4526,
          "endIntronDirection": "+",
          "endIntronOffset": 13981,
          "referenceAllele": "C",
          "start": 4526,
          "startIntronDirection": "+",
          "startIntronOffset": 13980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510566.1:c.4216+13981C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508868.1:n.4216+13981C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077829"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4526,
          "endIntronDirection": "+",
          "endIntronOffset": 13981,
          "referenceAllele": "C",
          "start": 4526,
          "startIntronDirection": "+",
          "startIntronOffset": 13980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510567.1:c.4216+13981C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508869.1:n.4216+13981C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077830"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4526,
          "endIntronDirection": "+",
          "endIntronOffset": 13981,
          "referenceAllele": "C",
          "start": 4526,
          "startIntronDirection": "+",
          "startIntronOffset": 13980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510569.1:c.4216+13981C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508871.1:n.4216+13981C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4526,
          "endIntronDirection": "+",
          "endIntronOffset": 13981,
          "referenceAllele": "C",
          "start": 4526,
          "startIntronDirection": "+",
          "startIntronOffset": 13980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510570.1:c.4216+13981C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508872.1:n.4216+13981C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077833"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4526,
          "endIntronDirection": "+",
          "endIntronOffset": 13981,
          "referenceAllele": "C",
          "start": 4526,
          "startIntronDirection": "+",
          "startIntronOffset": 13980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510571.1:c.4216+13981C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508873.1:n.4216+13981C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077834"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3298,
          "referenceAllele": "C",
          "start": 3297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510572.1:c.3086C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508874.1:p.Pro1029Leu",
        "hgvsWellDefined": "XP_011508874.1:p.Pro1029Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077835"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5070,
          "referenceAllele": "C",
          "start": 5069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XR_922837.1:n.5070C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS119899"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5070,
          "referenceAllele": "C",
          "start": 5069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XR_922838.1:n.5070C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS119900"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4526,
          "endIntronDirection": "+",
          "endIntronOffset": 13981,
          "referenceAllele": "C",
          "start": 4526,
          "startIntronDirection": "+",
          "startIntronOffset": 13980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XR_922839.1:n.4526+13981C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS119901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4526,
          "endIntronDirection": "+",
          "endIntronOffset": 13981,
          "referenceAllele": "C",
          "start": 4526,
          "startIntronDirection": "+",
          "startIntronOffset": 13980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XR_922840.1:n.4526+13981C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS119902"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4948,
          "referenceAllele": "C",
          "start": 4947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_005246281.3:c.4760C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246338.1:p.Pro1587Leu",
        "hgvsWellDefined": "XP_005246338.1:p.Pro1587Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532576"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4531,
          "referenceAllele": "C",
          "start": 4530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_005246282.3:c.4205C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246339.1:p.Pro1402Leu",
        "hgvsWellDefined": "XP_005246339.1:p.Pro1402Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532577"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4897,
          "referenceAllele": "C",
          "start": 4896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_006712246.3:c.4571C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712309.1:p.Pro1524Leu",
        "hgvsWellDefined": "XP_006712309.1:p.Pro1524Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538214"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5005,
          "referenceAllele": "C",
          "start": 5004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510557.2:c.4679C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508859.1:p.Pro1560Leu",
        "hgvsWellDefined": "XP_011508859.1:p.Pro1560Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541766"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4978,
          "referenceAllele": "C",
          "start": 4977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510558.2:c.4652C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508860.1:p.Pro1551Leu",
        "hgvsWellDefined": "XP_011508860.1:p.Pro1551Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5086,
          "referenceAllele": "C",
          "start": 5085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510559.2:c.4760C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508861.1:p.Pro1587Leu",
        "hgvsWellDefined": "XP_011508861.1:p.Pro1587Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541768"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5086,
          "referenceAllele": "C",
          "start": 5085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510560.2:c.4760C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508862.1:p.Pro1587Leu",
        "hgvsWellDefined": "XP_011508862.1:p.Pro1587Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541769"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5086,
          "referenceAllele": "C",
          "start": 5085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510561.2:c.4760C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508863.1:p.Pro1587Leu",
        "hgvsWellDefined": "XP_011508863.1:p.Pro1587Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541770"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5086,
          "referenceAllele": "C",
          "start": 5085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510562.2:c.4760C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508864.1:p.Pro1587Leu",
        "hgvsWellDefined": "XP_011508864.1:p.Pro1587Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541771"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4542,
          "endIntronDirection": "+",
          "endIntronOffset": 13981,
          "referenceAllele": "C",
          "start": 4542,
          "startIntronDirection": "+",
          "startIntronOffset": 13980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510565.2:c.4216+13981C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508867.1:n.4216+13981C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541772"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4542,
          "endIntronDirection": "+",
          "endIntronOffset": 13981,
          "referenceAllele": "C",
          "start": 4542,
          "startIntronDirection": "+",
          "startIntronOffset": 13980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510566.2:c.4216+13981C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508868.1:n.4216+13981C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541773"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4542,
          "endIntronDirection": "+",
          "endIntronOffset": 13981,
          "referenceAllele": "C",
          "start": 4542,
          "startIntronDirection": "+",
          "startIntronOffset": 13980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510567.2:c.4216+13981C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508869.1:n.4216+13981C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541774"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4542,
          "endIntronDirection": "+",
          "endIntronOffset": 13981,
          "referenceAllele": "C",
          "start": 4542,
          "startIntronDirection": "+",
          "startIntronOffset": 13980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510569.2:c.4216+13981C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508871.1:n.4216+13981C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541776"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4542,
          "endIntronDirection": "+",
          "endIntronOffset": 13981,
          "referenceAllele": "C",
          "start": 4542,
          "startIntronDirection": "+",
          "startIntronOffset": 13980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510570.2:c.4216+13981C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508872.1:n.4216+13981C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541777"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3314,
          "referenceAllele": "C",
          "start": 3313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510572.3:c.3086C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508874.1:p.Pro1029Leu",
        "hgvsWellDefined": "XP_011508874.1:p.Pro1029Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541778"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5086,
          "referenceAllele": "C",
          "start": 5085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_017003296.1:c.4760C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016858785.1:p.Pro1587Leu",
        "hgvsWellDefined": "XP_016858785.1:p.Pro1587Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559067"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4969,
          "referenceAllele": "C",
          "start": 4968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_017003297.1:c.4643C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016858786.1:p.Pro1548Leu",
        "hgvsWellDefined": "XP_016858786.1:p.Pro1548Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559068"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5086,
          "referenceAllele": "C",
          "start": 5085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_017003298.1:c.4760C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016858787.1:p.Pro1587Leu",
        "hgvsWellDefined": "XP_016858787.1:p.Pro1587Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559069"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4542,
          "endIntronDirection": "+",
          "endIntronOffset": 13981,
          "referenceAllele": "C",
          "start": 4542,
          "startIntronDirection": "+",
          "startIntronOffset": 13980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_017003300.1:c.4216+13981C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016858789.1:n.4216+13981C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559071"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5086,
          "referenceAllele": "C",
          "start": 5085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XR_001738602.1:n.5086C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589091"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5086,
          "referenceAllele": "C",
          "start": 5085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XR_001738603.1:n.5086C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589092"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4832,
          "referenceAllele": "C",
          "start": 4831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XR_001738604.1:n.4832C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589093"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4542,
          "endIntronDirection": "+",
          "endIntronOffset": 13981,
          "referenceAllele": "C",
          "start": 4542,
          "startIntronDirection": "+",
          "startIntronOffset": 13980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XR_001738606.1:n.4542+13981C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589094"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4542,
          "endIntronDirection": "+",
          "endIntronOffset": 13981,
          "referenceAllele": "C",
          "start": 4542,
          "startIntronDirection": "+",
          "startIntronOffset": 13980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XR_001738607.1:n.4542+13981C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589095"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5086,
          "referenceAllele": "C",
          "start": 5085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XR_922837.2:n.5086C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607167"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658664230",
      "coordinates": [
        {
          "allele": "T",
          "end": 5060,
          "referenceAllele": "C",
          "start": 5059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "NM_000092.5:c.4760C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000083.3:p.Pro1587Leu",
        "hgvsWellDefined": "NP_000083.3:p.Pro1587Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674699",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396625.5:c.4760C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000092.5:c.4760C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379866.3:p.Pro1587Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000083.3:p.Pro1587Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}