{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6988534",
  "communityStandardTitle": [
    "NM_000053.4(ATP7B):c.3914T>C (p.Leu1305Pro)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM4940601"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=568632[alleleid]",
        "alleleId": 568632,
        "preferredName": "NM_000053.4(ATP7B):c.3914T>C (p.Leu1305Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/582922",
        "RCV": [
          "RCV000707116"
        ],
        "variationId": 582922
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/13-52511519-A-G",
        "id": "13-52511519-A-G",
        "variant": "13:52511519 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.52511519A>G?assembly=hg19",
        "id": "chr13:g.52511519A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.51937383A>G?assembly=hg38",
        "id": "chr13:g.51937383A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/377144951",
        "rs": 377144951
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-52511519-A-G?dataset=gnomad_r2_1",
        "id": "13-52511519-A-G",
        "variant": "13:52511519 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-51937383-A-G?dataset=gnomad_r3",
        "id": "13-51937383-A-G",
        "variant": "13:51937383 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-51937383-A-G?dataset=gnomad_r4",
        "id": "13-51937383-A-G",
        "variant": "13:51937383 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 51937383,
          "referenceAllele": "A",
          "start": 51937382
        }
      ],
      "hgvs": [
        "NC_000013.11:g.51937383A>G",
        "CM000675.2:g.51937383A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 52511519,
          "referenceAllele": "A",
          "start": 52511518
        }
      ],
      "hgvs": [
        "NC_000013.10:g.52511519A>G",
        "CM000675.1:g.52511519A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 51409520,
          "referenceAllele": "A",
          "start": 51409519
        }
      ],
      "hgvs": [
        "NC_000013.9:g.51409520A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 79112,
          "referenceAllele": "T",
          "start": 79111
        }
      ],
      "hgvs": [
        "NG_008806.1:g.79112T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001225"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3669,
          "referenceAllele": "T",
          "start": 3668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634296.2:c.*1564T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489512.2:n.*1564T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914381"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4451,
          "referenceAllele": "T",
          "start": 4450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673864.2:c.*2658T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501045.2:n.*2658T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914449"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3406,
          "referenceAllele": "T",
          "start": 3405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674147.2:c.3293T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500964.2:p.Leu1098Pro",
        "hgvsWellDefined": "ENSP00000500964.2:p.Leu1098Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914453"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4027,
          "referenceAllele": "T",
          "start": 4026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000242839.10:c.3914T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242839.5:p.Leu1305Pro",
        "hgvsWellDefined": "ENSP00000242839.5:p.Leu1305Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741157",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242839.10:c.3914T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000053.4:c.3914T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242839.5:p.Leu1305Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000044.2:p.Leu1305Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3450,
          "referenceAllele": "T",
          "start": 3449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000344297.9:c.3293T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342559.5:p.Leu1098Pro",
        "hgvsWellDefined": "ENSP00000342559.5:p.Leu1098Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748204"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3581,
          "referenceAllele": "T",
          "start": 3580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400366.6:c.3581T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383217.3:p.Leu1194Pro",
        "hgvsWellDefined": "ENSP00000383217.3:p.Leu1194Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753917"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3915,
          "referenceAllele": "T",
          "start": 3914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000448424.7:c.3662T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416738.3:p.Leu1221Pro",
        "hgvsWellDefined": "ENSP00000416738.3:p.Leu1221Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756171"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1237,
          "referenceAllele": "T",
          "start": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673696.1:n.1237T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773796"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3754,
          "referenceAllele": "T",
          "start": 3753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673772.1:c.3680T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501168.1:p.Leu1227Pro",
        "hgvsWellDefined": "ENSP00000501168.1:p.Leu1227Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773858"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4053,
          "referenceAllele": "T",
          "start": 4052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673867.1:n.4053T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773928"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 780,
          "referenceAllele": "T",
          "start": 779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673923.1:n.780T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773978"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2849,
          "referenceAllele": "T",
          "start": 2848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674147.1:c.2849T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500964.1:p.Leu950Pro",
        "hgvsWellDefined": "ENSP00000500964.1:p.Leu950Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774163"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4071,
          "referenceAllele": "T",
          "start": 4070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000242839.8:c.3914T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242839.4:p.Leu1305Pro",
        "hgvsWellDefined": "ENSP00000242839.4:p.Leu1305Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249232"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3295,
          "referenceAllele": "T",
          "start": 3294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000344297.8:c.3293T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342559.5:p.Leu1098Pro",
        "hgvsWellDefined": "ENSP00000342559.5:p.Leu1098Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261940"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3738,
          "referenceAllele": "T",
          "start": 3737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400366.5:c.3581T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383217.3:p.Leu1194Pro",
        "hgvsWellDefined": "ENSP00000383217.3:p.Leu1194Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2698,
          "referenceAllele": "T",
          "start": 2697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400370.8:c.2624T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383221.3:p.Leu875Pro",
        "hgvsWellDefined": "ENSP00000383221.3:p.Leu875Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3793,
          "referenceAllele": "T",
          "start": 3792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000418097.7:c.3719T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393343.2:p.Leu1240Pro",
        "hgvsWellDefined": "ENSP00000393343.2:p.Leu1240Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285231"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3837,
          "referenceAllele": "T",
          "start": 3836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000448424.6:c.3680T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416738.2:p.Leu1227Pro",
        "hgvsWellDefined": "ENSP00000416738.2:p.Leu1227Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299723"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1692,
          "referenceAllele": "T",
          "start": 1691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634296.1:c.1692T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407767"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3772,
          "referenceAllele": "T",
          "start": 3771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634308.1:c.*1015T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489234.1:n.*1015T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407771"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4658,
          "referenceAllele": "T",
          "start": 4657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634620.1:n.4658T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407886"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3259,
          "referenceAllele": "T",
          "start": 3258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634810.1:n.3259T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407945"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3844,
          "referenceAllele": "T",
          "start": 3843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634844.1:c.3770T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489398.1:p.Leu1257Pro",
        "hgvsWellDefined": "ENSP00000489398.1:p.Leu1257Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407955"
    },
    {
      "@id": "http://reg.genome.network/allele/PA091930",
      "coordinates": [
        {
          "allele": "C",
          "end": 4071,
          "referenceAllele": "T",
          "start": 4070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_000053.3:c.3914T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000044.2:p.Leu1305Pro",
        "hgvsWellDefined": "NP_000044.2:p.Leu1305Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006118"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825280202",
      "coordinates": [
        {
          "allele": "C",
          "end": 3450,
          "referenceAllele": "T",
          "start": 3449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001005918.2:c.3293T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005918.1:p.Leu1098Pro",
        "hgvsWellDefined": "NP_001005918.1:p.Leu1098Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007800"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826318520",
      "coordinates": [
        {
          "allele": "C",
          "end": 3738,
          "referenceAllele": "T",
          "start": 3737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001243182.1:c.3581T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230111.1:p.Leu1194Pro",
        "hgvsWellDefined": "NP_001230111.1:p.Leu1194Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018435"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3976,
          "referenceAllele": "T",
          "start": 3975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266423.2:c.3818T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266480.1:p.Leu1273Pro",
        "hgvsWellDefined": "XP_005266480.1:p.Leu1273Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065049"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4068,
          "referenceAllele": "T",
          "start": 4067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266424.3:c.3818T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266481.1:p.Leu1273Pro",
        "hgvsWellDefined": "XP_005266481.1:p.Leu1273Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065050"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3899,
          "referenceAllele": "T",
          "start": 3898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266427.2:c.3680T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266484.1:p.Leu1227Pro",
        "hgvsWellDefined": "XP_005266484.1:p.Leu1227Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065051"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3881,
          "referenceAllele": "T",
          "start": 3880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266428.1:c.3662T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266485.1:p.Leu1221Pro",
        "hgvsWellDefined": "XP_005266485.1:p.Leu1221Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065052"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4048,
          "referenceAllele": "T",
          "start": 4047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266430.3:c.3914T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266487.1:p.Leu1305Pro",
        "hgvsWellDefined": "XP_005266487.1:p.Leu1305Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065053"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3893,
          "referenceAllele": "T",
          "start": 3892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266431.2:c.3878T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266488.1:p.Leu1293Pro",
        "hgvsWellDefined": "XP_005266488.1:p.Leu1293Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065054"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3647,
          "referenceAllele": "T",
          "start": 3646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266432.2:c.3428T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266489.1:p.Leu1143Pro",
        "hgvsWellDefined": "XP_005266489.1:p.Leu1143Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065055"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3908,
          "referenceAllele": "T",
          "start": 3907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719837.2:c.3818T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719900.1:p.Leu1273Pro",
        "hgvsWellDefined": "XP_006719900.1:p.Leu1273Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073355"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1866,
          "referenceAllele": "T",
          "start": 1865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719838.1:c.1730T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719901.1:p.Leu577Pro",
        "hgvsWellDefined": "XP_006719901.1:p.Leu577Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073356"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1683,
          "referenceAllele": "T",
          "start": 1682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719839.1:c.1547T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719902.1:p.Leu516Pro",
        "hgvsWellDefined": "XP_006719902.1:p.Leu516Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073357"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3920,
          "referenceAllele": "T",
          "start": 3919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535117.1:c.3818T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533419.1:p.Leu1273Pro",
        "hgvsWellDefined": "XP_011533419.1:p.Leu1273Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102126"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3998,
          "referenceAllele": "T",
          "start": 3997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535118.1:c.3779T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533420.1:p.Leu1260Pro",
        "hgvsWellDefined": "XP_011533420.1:p.Leu1260Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102127"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3950,
          "referenceAllele": "T",
          "start": 3949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535119.1:c.3731T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533421.1:p.Leu1244Pro",
        "hgvsWellDefined": "XP_011533421.1:p.Leu1244Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102128"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3719,
          "referenceAllele": "T",
          "start": 3718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535120.1:c.3500T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533422.1:p.Leu1167Pro",
        "hgvsWellDefined": "XP_011533422.1:p.Leu1167Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102129"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3620,
          "referenceAllele": "T",
          "start": 3619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535121.1:c.3401T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533423.1:p.Leu1134Pro",
        "hgvsWellDefined": "XP_011533423.1:p.Leu1134Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102130"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2695,
          "referenceAllele": "T",
          "start": 2694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535122.1:c.2582T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533424.1:p.Leu861Pro",
        "hgvsWellDefined": "XP_011533424.1:p.Leu861Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102131"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4133,
          "referenceAllele": "T",
          "start": 4132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941601.1:n.4133T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136194"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4133,
          "referenceAllele": "T",
          "start": 4132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941602.1:n.4133T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136195"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4133,
          "referenceAllele": "T",
          "start": 4132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941603.1:n.4133T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136196"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4133,
          "referenceAllele": "T",
          "start": 4132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941604.1:n.4133T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136197"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827327209",
      "coordinates": [
        {
          "allele": "C",
          "end": 3837,
          "referenceAllele": "T",
          "start": 3836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.1:c.3680T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:p.Leu1227Pro",
        "hgvsWellDefined": "NP_001317507.1:p.Leu1227Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516930"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827330296",
      "coordinates": [
        {
          "allele": "C",
          "end": 3819,
          "referenceAllele": "T",
          "start": 3818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330579.1:c.3662T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317508.1:p.Leu1221Pro",
        "hgvsWellDefined": "NP_001317508.1:p.Leu1221Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516931"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4597,
          "referenceAllele": "T",
          "start": 4596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266424.4:c.3818T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266481.1:p.Leu1273Pro",
        "hgvsWellDefined": "XP_005266481.1:p.Leu1273Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536236"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4079,
          "referenceAllele": "T",
          "start": 4078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266430.4:c.3914T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266487.1:p.Leu1305Pro",
        "hgvsWellDefined": "XP_005266487.1:p.Leu1305Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536237"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6963,
          "referenceAllele": "T",
          "start": 6962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266431.4:c.3878T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266488.1:p.Leu1293Pro",
        "hgvsWellDefined": "XP_005266488.1:p.Leu1293Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536238"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4225,
          "referenceAllele": "T",
          "start": 4224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719837.3:c.3818T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719900.1:p.Leu1273Pro",
        "hgvsWellDefined": "XP_006719900.1:p.Leu1273Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539964"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5160,
          "referenceAllele": "T",
          "start": 5159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535117.3:c.3818T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533419.1:p.Leu1273Pro",
        "hgvsWellDefined": "XP_011533419.1:p.Leu1273Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551907"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3975,
          "referenceAllele": "T",
          "start": 3974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_017020627.1:c.3818T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876116.1:p.Leu1273Pro",
        "hgvsWellDefined": "XP_016876116.1:p.Leu1273Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA091930",
      "coordinates": [
        {
          "allele": "C",
          "end": 4027,
          "referenceAllele": "T",
          "start": 4026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_000053.4:c.3914T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000044.2:p.Leu1305Pro",
        "hgvsWellDefined": "NP_000044.2:p.Leu1305Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674679",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242839.10:c.3914T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000053.4:c.3914T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242839.5:p.Leu1305Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000044.2:p.Leu1305Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825280202",
      "coordinates": [
        {
          "allele": "C",
          "end": 3406,
          "referenceAllele": "T",
          "start": 3405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001005918.3:c.3293T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005918.1:p.Leu1098Pro",
        "hgvsWellDefined": "NP_001005918.1:p.Leu1098Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675222"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827330296",
      "coordinates": [
        {
          "allele": "C",
          "end": 3775,
          "referenceAllele": "T",
          "start": 3774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330579.2:c.3662T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317508.1:p.Leu1221Pro",
        "hgvsWellDefined": "NP_001317508.1:p.Leu1221Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826318520",
      "coordinates": [
        {
          "allele": "C",
          "end": 3694,
          "referenceAllele": "T",
          "start": 3693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001243182.2:c.3581T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230111.1:p.Leu1194Pro",
        "hgvsWellDefined": "NP_001230111.1:p.Leu1194Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714450"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827327209",
      "coordinates": [
        {
          "allele": "C",
          "end": 3793,
          "referenceAllele": "T",
          "start": 3792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.2:c.3680T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:p.Leu1227Pro",
        "hgvsWellDefined": "NP_001317507.1:p.Leu1227Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718719"
    }
  ],
  "type": "nucleotide"
}