{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA257925",
  "communityStandardTitle": [
    "NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM1186144"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32448[alleleid]",
        "alleleId": 32448,
        "preferredName": "NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17409",
        "RCV": [
          "RCV000018952",
          "RCV000825912",
          "RCV001140736",
          "RCV001245590",
          "RCV002293986",
          "RCV004018643"
        ],
        "variationId": 17409
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-227872828-G-A",
        "id": "2-227872828-G-A",
        "variant": "2:227872828 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.227872828G>A?assembly=hg19",
        "id": "chr2:g.227872828G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.227008112G>A?assembly=hg38",
        "id": "chr2:g.227008112G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912863",
        "rs": 121912863
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-227872828-G-A?dataset=gnomad_r2_1",
        "id": "2-227872828-G-A",
        "variant": "2:227872828 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-227008112-G-A?dataset=gnomad_r3",
        "id": "2-227008112-G-A",
        "variant": "2:227008112 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-227008112-G-A?dataset=gnomad_r4",
        "id": "2-227008112-G-A",
        "variant": "2:227008112 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 227008112,
          "referenceAllele": "G",
          "start": 227008111
        }
      ],
      "hgvs": [
        "NC_000002.12:g.227008112G>A",
        "CM000664.2:g.227008112G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 227872828,
          "referenceAllele": "G",
          "start": 227872827
        }
      ],
      "hgvs": [
        "NC_000002.11:g.227872828G>A",
        "CM000664.1:g.227872828G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 227581072,
          "referenceAllele": "G",
          "start": 227581071
        }
      ],
      "hgvs": [
        "NC_000002.10:g.227581072G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 161448,
          "referenceAllele": "C",
          "start": 161447
        }
      ],
      "hgvs": [
        "NG_011592.1:g.161448C>T",
        "LRG_231:g.161448C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001840"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 317,
          "referenceAllele": "C",
          "start": 316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "ENST00000682098.1:c.317C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508331.1:p.Pro106Leu",
        "hgvsWellDefined": "ENSP00000508331.1:p.Pro106Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827095"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5015,
          "referenceAllele": "C",
          "start": 5014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "ENST00000396625.5:c.4715C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379866.3:p.Pro1572Leu",
        "hgvsWellDefined": "ENSP00000379866.3:p.Pro1572Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753543",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396625.5:c.4715C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000092.5:c.4715C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379866.3:p.Pro1572Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000083.3:p.Pro1572Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4923,
          "referenceAllele": "C",
          "start": 4922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "ENST00000396625.3:c.4715C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379866.3:p.Pro1572Leu",
        "hgvsWellDefined": "ENSP00000379866.3:p.Pro1572Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277360"
    },
    {
      "@id": "http://reg.genome.network/allele/PA099342",
      "coordinates": [
        {
          "allele": "T",
          "end": 5369,
          "referenceAllele": "C",
          "start": 5368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "NM_000092.4:c.4715C>T",
        "LRG_231t1:c.4715C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000083.3:p.Pro1572Leu",
        "hgvsWellDefined": "NP_000083.3:p.Pro1572Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006156"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4900,
          "referenceAllele": "C",
          "start": 4899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_005246281.2:c.4715C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246338.1:p.Pro1572Leu",
        "hgvsWellDefined": "XP_005246338.1:p.Pro1572Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057551"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4470,
          "referenceAllele": "C",
          "start": 4469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_005246282.2:c.4160C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246339.1:p.Pro1387Leu",
        "hgvsWellDefined": "XP_005246339.1:p.Pro1387Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057552"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4836,
          "referenceAllele": "C",
          "start": 4835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_006712246.2:c.4526C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712309.1:p.Pro1509Leu",
        "hgvsWellDefined": "XP_006712309.1:p.Pro1509Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069541"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5025,
          "referenceAllele": "C",
          "start": 5024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_006712249.2:c.4715C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712312.1:p.Pro1572Leu",
        "hgvsWellDefined": "XP_006712312.1:p.Pro1572Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069542"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4526,
          "endIntronDirection": "+",
          "endIntronOffset": 13936,
          "referenceAllele": "C",
          "start": 4526,
          "startIntronDirection": "+",
          "startIntronOffset": 13935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_006712252.2:c.4216+13936C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712315.1:n.4216+13936C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069544"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4944,
          "referenceAllele": "C",
          "start": 4943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510557.1:c.4634C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508859.1:p.Pro1545Leu",
        "hgvsWellDefined": "XP_011508859.1:p.Pro1545Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077820"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4917,
          "referenceAllele": "C",
          "start": 4916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510558.1:c.4607C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508860.1:p.Pro1536Leu",
        "hgvsWellDefined": "XP_011508860.1:p.Pro1536Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077821"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5025,
          "referenceAllele": "C",
          "start": 5024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510559.1:c.4715C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508861.1:p.Pro1572Leu",
        "hgvsWellDefined": "XP_011508861.1:p.Pro1572Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077822"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5025,
          "referenceAllele": "C",
          "start": 5024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510560.1:c.4715C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508862.1:p.Pro1572Leu",
        "hgvsWellDefined": "XP_011508862.1:p.Pro1572Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077823"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5025,
          "referenceAllele": "C",
          "start": 5024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510561.1:c.4715C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508863.1:p.Pro1572Leu",
        "hgvsWellDefined": "XP_011508863.1:p.Pro1572Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077824"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5025,
          "referenceAllele": "C",
          "start": 5024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510562.1:c.4715C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508864.1:p.Pro1572Leu",
        "hgvsWellDefined": "XP_011508864.1:p.Pro1572Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077825"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4771,
          "referenceAllele": "C",
          "start": 4770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510563.1:c.*48C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508865.1:n.*48C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077826"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4654,
          "referenceAllele": "C",
          "start": 4653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510564.1:c.*48C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508866.1:n.*48C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077827"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4526,
          "endIntronDirection": "+",
          "endIntronOffset": 13936,
          "referenceAllele": "C",
          "start": 4526,
          "startIntronDirection": "+",
          "startIntronOffset": 13935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510565.1:c.4216+13936C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508867.1:n.4216+13936C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077828"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4526,
          "endIntronDirection": "+",
          "endIntronOffset": 13936,
          "referenceAllele": "C",
          "start": 4526,
          "startIntronDirection": "+",
          "startIntronOffset": 13935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510566.1:c.4216+13936C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508868.1:n.4216+13936C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077829"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4526,
          "endIntronDirection": "+",
          "endIntronOffset": 13936,
          "referenceAllele": "C",
          "start": 4526,
          "startIntronDirection": "+",
          "startIntronOffset": 13935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510567.1:c.4216+13936C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508869.1:n.4216+13936C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077830"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4526,
          "endIntronDirection": "+",
          "endIntronOffset": 13936,
          "referenceAllele": "C",
          "start": 4526,
          "startIntronDirection": "+",
          "startIntronOffset": 13935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510569.1:c.4216+13936C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508871.1:n.4216+13936C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4526,
          "endIntronDirection": "+",
          "endIntronOffset": 13936,
          "referenceAllele": "C",
          "start": 4526,
          "startIntronDirection": "+",
          "startIntronOffset": 13935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510570.1:c.4216+13936C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508872.1:n.4216+13936C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077833"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4526,
          "endIntronDirection": "+",
          "endIntronOffset": 13936,
          "referenceAllele": "C",
          "start": 4526,
          "startIntronDirection": "+",
          "startIntronOffset": 13935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510571.1:c.4216+13936C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508873.1:n.4216+13936C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077834"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3253,
          "referenceAllele": "C",
          "start": 3252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510572.1:c.3041C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508874.1:p.Pro1014Leu",
        "hgvsWellDefined": "XP_011508874.1:p.Pro1014Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077835"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5025,
          "referenceAllele": "C",
          "start": 5024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XR_922837.1:n.5025C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS119899"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5025,
          "referenceAllele": "C",
          "start": 5024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XR_922838.1:n.5025C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS119900"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4526,
          "endIntronDirection": "+",
          "endIntronOffset": 13936,
          "referenceAllele": "C",
          "start": 4526,
          "startIntronDirection": "+",
          "startIntronOffset": 13935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XR_922839.1:n.4526+13936C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS119901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4526,
          "endIntronDirection": "+",
          "endIntronOffset": 13936,
          "referenceAllele": "C",
          "start": 4526,
          "startIntronDirection": "+",
          "startIntronOffset": 13935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XR_922840.1:n.4526+13936C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS119902"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4903,
          "referenceAllele": "C",
          "start": 4902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_005246281.3:c.4715C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246338.1:p.Pro1572Leu",
        "hgvsWellDefined": "XP_005246338.1:p.Pro1572Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532576"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4486,
          "referenceAllele": "C",
          "start": 4485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_005246282.3:c.4160C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246339.1:p.Pro1387Leu",
        "hgvsWellDefined": "XP_005246339.1:p.Pro1387Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532577"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4852,
          "referenceAllele": "C",
          "start": 4851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_006712246.3:c.4526C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712309.1:p.Pro1509Leu",
        "hgvsWellDefined": "XP_006712309.1:p.Pro1509Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538214"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4960,
          "referenceAllele": "C",
          "start": 4959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510557.2:c.4634C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508859.1:p.Pro1545Leu",
        "hgvsWellDefined": "XP_011508859.1:p.Pro1545Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541766"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4933,
          "referenceAllele": "C",
          "start": 4932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510558.2:c.4607C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508860.1:p.Pro1536Leu",
        "hgvsWellDefined": "XP_011508860.1:p.Pro1536Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5041,
          "referenceAllele": "C",
          "start": 5040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510559.2:c.4715C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508861.1:p.Pro1572Leu",
        "hgvsWellDefined": "XP_011508861.1:p.Pro1572Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541768"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5041,
          "referenceAllele": "C",
          "start": 5040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510560.2:c.4715C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508862.1:p.Pro1572Leu",
        "hgvsWellDefined": "XP_011508862.1:p.Pro1572Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541769"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5041,
          "referenceAllele": "C",
          "start": 5040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510561.2:c.4715C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508863.1:p.Pro1572Leu",
        "hgvsWellDefined": "XP_011508863.1:p.Pro1572Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541770"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5041,
          "referenceAllele": "C",
          "start": 5040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510562.2:c.4715C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508864.1:p.Pro1572Leu",
        "hgvsWellDefined": "XP_011508864.1:p.Pro1572Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541771"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4542,
          "endIntronDirection": "+",
          "endIntronOffset": 13936,
          "referenceAllele": "C",
          "start": 4542,
          "startIntronDirection": "+",
          "startIntronOffset": 13935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510565.2:c.4216+13936C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508867.1:n.4216+13936C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541772"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4542,
          "endIntronDirection": "+",
          "endIntronOffset": 13936,
          "referenceAllele": "C",
          "start": 4542,
          "startIntronDirection": "+",
          "startIntronOffset": 13935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510566.2:c.4216+13936C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508868.1:n.4216+13936C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541773"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4542,
          "endIntronDirection": "+",
          "endIntronOffset": 13936,
          "referenceAllele": "C",
          "start": 4542,
          "startIntronDirection": "+",
          "startIntronOffset": 13935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510567.2:c.4216+13936C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508869.1:n.4216+13936C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541774"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4542,
          "endIntronDirection": "+",
          "endIntronOffset": 13936,
          "referenceAllele": "C",
          "start": 4542,
          "startIntronDirection": "+",
          "startIntronOffset": 13935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510569.2:c.4216+13936C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508871.1:n.4216+13936C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541776"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4542,
          "endIntronDirection": "+",
          "endIntronOffset": 13936,
          "referenceAllele": "C",
          "start": 4542,
          "startIntronDirection": "+",
          "startIntronOffset": 13935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510570.2:c.4216+13936C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508872.1:n.4216+13936C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541777"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3269,
          "referenceAllele": "C",
          "start": 3268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_011510572.3:c.3041C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508874.1:p.Pro1014Leu",
        "hgvsWellDefined": "XP_011508874.1:p.Pro1014Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541778"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5041,
          "referenceAllele": "C",
          "start": 5040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_017003296.1:c.4715C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016858785.1:p.Pro1572Leu",
        "hgvsWellDefined": "XP_016858785.1:p.Pro1572Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559067"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4924,
          "referenceAllele": "C",
          "start": 4923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_017003297.1:c.4598C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016858786.1:p.Pro1533Leu",
        "hgvsWellDefined": "XP_016858786.1:p.Pro1533Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559068"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5041,
          "referenceAllele": "C",
          "start": 5040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_017003298.1:c.4715C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016858787.1:p.Pro1572Leu",
        "hgvsWellDefined": "XP_016858787.1:p.Pro1572Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559069"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4542,
          "endIntronDirection": "+",
          "endIntronOffset": 13936,
          "referenceAllele": "C",
          "start": 4542,
          "startIntronDirection": "+",
          "startIntronOffset": 13935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XM_017003300.1:c.4216+13936C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016858789.1:n.4216+13936C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559071"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5041,
          "referenceAllele": "C",
          "start": 5040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XR_001738602.1:n.5041C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589091"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5041,
          "referenceAllele": "C",
          "start": 5040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XR_001738603.1:n.5041C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589092"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4787,
          "referenceAllele": "C",
          "start": 4786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XR_001738604.1:n.4787C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589093"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4542,
          "endIntronDirection": "+",
          "endIntronOffset": 13936,
          "referenceAllele": "C",
          "start": 4542,
          "startIntronDirection": "+",
          "startIntronOffset": 13935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XR_001738606.1:n.4542+13936C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589094"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4542,
          "endIntronDirection": "+",
          "endIntronOffset": 13936,
          "referenceAllele": "C",
          "start": 4542,
          "startIntronDirection": "+",
          "startIntronOffset": 13935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XR_001738607.1:n.4542+13936C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589095"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5041,
          "referenceAllele": "C",
          "start": 5040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "XR_922837.2:n.5041C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607167"
    },
    {
      "@id": "http://reg.genome.network/allele/PA099342",
      "coordinates": [
        {
          "allele": "T",
          "end": 5015,
          "referenceAllele": "C",
          "start": 5014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002206",
      "geneNCBI_id": 1286,
      "geneSymbol": "COL4A4",
      "hgvs": [
        "NM_000092.5:c.4715C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000083.3:p.Pro1572Leu",
        "hgvsWellDefined": "NP_000083.3:p.Pro1572Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674699",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396625.5:c.4715C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000092.5:c.4715C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379866.3:p.Pro1572Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000083.3:p.Pro1572Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}