{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA388021788",
  "communityStandardTitle": [
    "NM_000053.4(ATP7B):c.3833C>T (p.Ala1278Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=963291[alleleid]",
        "alleleId": 963291,
        "preferredName": "NM_000053.4(ATP7B):c.3833C>T (p.Ala1278Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/975010",
        "RCV": [
          "RCV001251406"
        ],
        "variationId": 975010
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.52511682G>A?assembly=hg19",
        "id": "chr13:g.52511682G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.51937546G>A?assembly=hg38",
        "id": "chr13:g.51937546G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1375884723",
        "rs": 1375884723
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-51937546-G-A?dataset=gnomad_r4",
        "id": "13-51937546-G-A",
        "variant": "13:51937546 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 51937546,
          "referenceAllele": "G",
          "start": 51937545
        }
      ],
      "hgvs": [
        "NC_000013.11:g.51937546G>A",
        "CM000675.2:g.51937546G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 52511682,
          "referenceAllele": "G",
          "start": 52511681
        }
      ],
      "hgvs": [
        "NC_000013.10:g.52511682G>A",
        "CM000675.1:g.52511682G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 51409683,
          "referenceAllele": "G",
          "start": 51409682
        }
      ],
      "hgvs": [
        "NC_000013.9:g.51409683G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 78949,
          "referenceAllele": "C",
          "start": 78948
        }
      ],
      "hgvs": [
        "NG_008806.1:g.78949C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001225"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3588,
          "referenceAllele": "C",
          "start": 3587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634296.2:c.*1483C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489512.2:n.*1483C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914381"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4370,
          "referenceAllele": "C",
          "start": 4369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673864.2:c.*2577C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501045.2:n.*2577C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914449"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3325,
          "referenceAllele": "C",
          "start": 3324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674147.2:c.3212C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500964.2:p.Ala1071Val",
        "hgvsWellDefined": "ENSP00000500964.2:p.Ala1071Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914453"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3946,
          "referenceAllele": "C",
          "start": 3945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000242839.10:c.3833C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242839.5:p.Ala1278Val",
        "hgvsWellDefined": "ENSP00000242839.5:p.Ala1278Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741157",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242839.10:c.3833C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000053.4:c.3833C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242839.5:p.Ala1278Val"
          },
          "RefSeq": {
            "hgvs": "NP_000044.2:p.Ala1278Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3369,
          "referenceAllele": "C",
          "start": 3368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000344297.9:c.3212C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342559.5:p.Ala1071Val",
        "hgvsWellDefined": "ENSP00000342559.5:p.Ala1071Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3500,
          "referenceAllele": "C",
          "start": 3499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400366.6:c.3500C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383217.3:p.Ala1167Val",
        "hgvsWellDefined": "ENSP00000383217.3:p.Ala1167Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753917"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3834,
          "referenceAllele": "C",
          "start": 3833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000448424.7:c.3581C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416738.3:p.Ala1194Val",
        "hgvsWellDefined": "ENSP00000416738.3:p.Ala1194Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756171"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1074,
          "referenceAllele": "C",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673696.1:n.1074C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773796"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3673,
          "referenceAllele": "C",
          "start": 3672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673772.1:c.3599C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501168.1:p.Ala1200Val",
        "hgvsWellDefined": "ENSP00000501168.1:p.Ala1200Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773858"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3972,
          "referenceAllele": "C",
          "start": 3971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673867.1:n.3972C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773928"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 699,
          "referenceAllele": "C",
          "start": 698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673923.1:n.699C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773978"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2768,
          "referenceAllele": "C",
          "start": 2767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674147.1:c.2768C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500964.1:p.Ala923Val",
        "hgvsWellDefined": "ENSP00000500964.1:p.Ala923Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774163"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3990,
          "referenceAllele": "C",
          "start": 3989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000242839.8:c.3833C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242839.4:p.Ala1278Val",
        "hgvsWellDefined": "ENSP00000242839.4:p.Ala1278Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249232"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3214,
          "referenceAllele": "C",
          "start": 3213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000344297.8:c.3212C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342559.5:p.Ala1071Val",
        "hgvsWellDefined": "ENSP00000342559.5:p.Ala1071Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261940"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3657,
          "referenceAllele": "C",
          "start": 3656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400366.5:c.3500C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383217.3:p.Ala1167Val",
        "hgvsWellDefined": "ENSP00000383217.3:p.Ala1167Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2617,
          "referenceAllele": "C",
          "start": 2616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400370.8:c.2543C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383221.3:p.Ala848Val",
        "hgvsWellDefined": "ENSP00000383221.3:p.Ala848Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3712,
          "referenceAllele": "C",
          "start": 3711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000418097.7:c.3638C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393343.2:p.Ala1213Val",
        "hgvsWellDefined": "ENSP00000393343.2:p.Ala1213Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3756,
          "referenceAllele": "C",
          "start": 3755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000448424.6:c.3599C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416738.2:p.Ala1200Val",
        "hgvsWellDefined": "ENSP00000416738.2:p.Ala1200Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299723"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1611,
          "referenceAllele": "C",
          "start": 1610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634296.1:c.1611C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3691,
          "referenceAllele": "C",
          "start": 3690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634308.1:c.*934C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489234.1:n.*934C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407771"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4577,
          "referenceAllele": "C",
          "start": 4576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634620.1:n.4577C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407886"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3178,
          "referenceAllele": "C",
          "start": 3177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634810.1:n.3178C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407945"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3763,
          "referenceAllele": "C",
          "start": 3762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634844.1:c.3689C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489398.1:p.Ala1230Val",
        "hgvsWellDefined": "ENSP00000489398.1:p.Ala1230Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407955"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139670889",
      "coordinates": [
        {
          "allele": "T",
          "end": 3990,
          "referenceAllele": "C",
          "start": 3989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_000053.3:c.3833C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000044.2:p.Ala1278Val",
        "hgvsWellDefined": "NP_000044.2:p.Ala1278Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006118"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825280152",
      "coordinates": [
        {
          "allele": "T",
          "end": 3369,
          "referenceAllele": "C",
          "start": 3368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001005918.2:c.3212C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005918.1:p.Ala1071Val",
        "hgvsWellDefined": "NP_001005918.1:p.Ala1071Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007800"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826318471",
      "coordinates": [
        {
          "allele": "T",
          "end": 3657,
          "referenceAllele": "C",
          "start": 3656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001243182.1:c.3500C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230111.1:p.Ala1167Val",
        "hgvsWellDefined": "NP_001230111.1:p.Ala1167Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018435"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3895,
          "referenceAllele": "C",
          "start": 3894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266423.2:c.3737C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266480.1:p.Ala1246Val",
        "hgvsWellDefined": "XP_005266480.1:p.Ala1246Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065049"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3987,
          "referenceAllele": "C",
          "start": 3986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266424.3:c.3737C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266481.1:p.Ala1246Val",
        "hgvsWellDefined": "XP_005266481.1:p.Ala1246Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065050"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3818,
          "referenceAllele": "C",
          "start": 3817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266427.2:c.3599C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266484.1:p.Ala1200Val",
        "hgvsWellDefined": "XP_005266484.1:p.Ala1200Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065051"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3800,
          "referenceAllele": "C",
          "start": 3799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266428.1:c.3581C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266485.1:p.Ala1194Val",
        "hgvsWellDefined": "XP_005266485.1:p.Ala1194Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065052"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3967,
          "referenceAllele": "C",
          "start": 3966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266430.3:c.3833C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266487.1:p.Ala1278Val",
        "hgvsWellDefined": "XP_005266487.1:p.Ala1278Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065053"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3812,
          "referenceAllele": "C",
          "start": 3811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266431.2:c.3797C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266488.1:p.Ala1266Val",
        "hgvsWellDefined": "XP_005266488.1:p.Ala1266Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065054"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3566,
          "referenceAllele": "C",
          "start": 3565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266432.2:c.3347C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266489.1:p.Ala1116Val",
        "hgvsWellDefined": "XP_005266489.1:p.Ala1116Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065055"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3827,
          "referenceAllele": "C",
          "start": 3826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719837.2:c.3737C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719900.1:p.Ala1246Val",
        "hgvsWellDefined": "XP_006719900.1:p.Ala1246Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073355"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1785,
          "referenceAllele": "C",
          "start": 1784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719838.1:c.1649C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719901.1:p.Ala550Val",
        "hgvsWellDefined": "XP_006719901.1:p.Ala550Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1602,
          "referenceAllele": "C",
          "start": 1601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719839.1:c.1466C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719902.1:p.Ala489Val",
        "hgvsWellDefined": "XP_006719902.1:p.Ala489Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073357"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3839,
          "referenceAllele": "C",
          "start": 3838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535117.1:c.3737C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533419.1:p.Ala1246Val",
        "hgvsWellDefined": "XP_011533419.1:p.Ala1246Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102126"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3917,
          "referenceAllele": "C",
          "start": 3916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535118.1:c.3698C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533420.1:p.Ala1233Val",
        "hgvsWellDefined": "XP_011533420.1:p.Ala1233Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3869,
          "referenceAllele": "C",
          "start": 3868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535119.1:c.3650C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533421.1:p.Ala1217Val",
        "hgvsWellDefined": "XP_011533421.1:p.Ala1217Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3638,
          "referenceAllele": "C",
          "start": 3637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535120.1:c.3419C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533422.1:p.Ala1140Val",
        "hgvsWellDefined": "XP_011533422.1:p.Ala1140Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102129"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3539,
          "referenceAllele": "C",
          "start": 3538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535121.1:c.3320C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533423.1:p.Ala1107Val",
        "hgvsWellDefined": "XP_011533423.1:p.Ala1107Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102130"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2614,
          "referenceAllele": "C",
          "start": 2613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535122.1:c.2501C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533424.1:p.Ala834Val",
        "hgvsWellDefined": "XP_011533424.1:p.Ala834Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102131"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4052,
          "referenceAllele": "C",
          "start": 4051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941601.1:n.4052C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136194"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4052,
          "referenceAllele": "C",
          "start": 4051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941602.1:n.4052C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136195"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4052,
          "referenceAllele": "C",
          "start": 4051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941603.1:n.4052C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136196"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4052,
          "referenceAllele": "C",
          "start": 4051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941604.1:n.4052C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136197"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827327122",
      "coordinates": [
        {
          "allele": "T",
          "end": 3756,
          "referenceAllele": "C",
          "start": 3755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.1:c.3599C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:p.Ala1200Val",
        "hgvsWellDefined": "NP_001317507.1:p.Ala1200Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516930"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827330209",
      "coordinates": [
        {
          "allele": "T",
          "end": 3738,
          "referenceAllele": "C",
          "start": 3737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330579.1:c.3581C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317508.1:p.Ala1194Val",
        "hgvsWellDefined": "NP_001317508.1:p.Ala1194Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516931"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4516,
          "referenceAllele": "C",
          "start": 4515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266424.4:c.3737C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266481.1:p.Ala1246Val",
        "hgvsWellDefined": "XP_005266481.1:p.Ala1246Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536236"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3998,
          "referenceAllele": "C",
          "start": 3997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266430.4:c.3833C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266487.1:p.Ala1278Val",
        "hgvsWellDefined": "XP_005266487.1:p.Ala1278Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536237"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6882,
          "referenceAllele": "C",
          "start": 6881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266431.4:c.3797C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266488.1:p.Ala1266Val",
        "hgvsWellDefined": "XP_005266488.1:p.Ala1266Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536238"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4144,
          "referenceAllele": "C",
          "start": 4143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719837.3:c.3737C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719900.1:p.Ala1246Val",
        "hgvsWellDefined": "XP_006719900.1:p.Ala1246Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539964"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5079,
          "referenceAllele": "C",
          "start": 5078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535117.3:c.3737C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533419.1:p.Ala1246Val",
        "hgvsWellDefined": "XP_011533419.1:p.Ala1246Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551907"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3894,
          "referenceAllele": "C",
          "start": 3893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_017020627.1:c.3737C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876116.1:p.Ala1246Val",
        "hgvsWellDefined": "XP_016876116.1:p.Ala1246Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139670889",
      "coordinates": [
        {
          "allele": "T",
          "end": 3946,
          "referenceAllele": "C",
          "start": 3945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_000053.4:c.3833C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000044.2:p.Ala1278Val",
        "hgvsWellDefined": "NP_000044.2:p.Ala1278Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674679",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242839.10:c.3833C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000053.4:c.3833C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242839.5:p.Ala1278Val"
          },
          "RefSeq": {
            "hgvs": "NP_000044.2:p.Ala1278Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825280152",
      "coordinates": [
        {
          "allele": "T",
          "end": 3325,
          "referenceAllele": "C",
          "start": 3324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001005918.3:c.3212C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005918.1:p.Ala1071Val",
        "hgvsWellDefined": "NP_001005918.1:p.Ala1071Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675222"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827330209",
      "coordinates": [
        {
          "allele": "T",
          "end": 3694,
          "referenceAllele": "C",
          "start": 3693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330579.2:c.3581C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317508.1:p.Ala1194Val",
        "hgvsWellDefined": "NP_001317508.1:p.Ala1194Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826318471",
      "coordinates": [
        {
          "allele": "T",
          "end": 3613,
          "referenceAllele": "C",
          "start": 3612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001243182.2:c.3500C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230111.1:p.Ala1167Val",
        "hgvsWellDefined": "NP_001230111.1:p.Ala1167Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714450"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827327122",
      "coordinates": [
        {
          "allele": "T",
          "end": 3712,
          "referenceAllele": "C",
          "start": 3711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.2:c.3599C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:p.Ala1200Val",
        "hgvsWellDefined": "NP_001317507.1:p.Ala1200Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718719"
    }
  ],
  "type": "nucleotide"
}