{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6989273",
  "communityStandardTitle": [
    "NM_000053.4(ATP7B):c.1694A>G (p.Asn565Ser)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5763240",
        "active": true,
        "id": "COSM5763240"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=609311[alleleid]",
        "alleleId": 609311,
        "preferredName": "NM_000053.4(ATP7B):c.1694A>G (p.Asn565Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/617909",
        "RCV": [
          "RCV000755712"
        ],
        "variationId": 617909
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/13-52542593-T-C",
        "id": "13-52542593-T-C",
        "variant": "13:52542593 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.52542593T>C?assembly=hg19",
        "id": "chr13:g.52542593T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.51968457T>C?assembly=hg38",
        "id": "chr13:g.51968457T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/778475094",
        "rs": 778475094
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-52542593-T-C?dataset=gnomad_r2_1",
        "id": "13-52542593-T-C",
        "variant": "13:52542593 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-51968457-T-C?dataset=gnomad_r3",
        "id": "13-51968457-T-C",
        "variant": "13:51968457 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-51968457-T-C?dataset=gnomad_r4",
        "id": "13-51968457-T-C",
        "variant": "13:51968457 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 51968457,
          "referenceAllele": "T",
          "start": 51968456
        }
      ],
      "hgvs": [
        "NC_000013.11:g.51968457T>C",
        "CM000675.2:g.51968457T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 52542593,
          "referenceAllele": "T",
          "start": 52542592
        }
      ],
      "hgvs": [
        "NC_000013.10:g.52542593T>C",
        "CM000675.1:g.52542593T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 51440594,
          "referenceAllele": "T",
          "start": 51440593
        }
      ],
      "hgvs": [
        "NC_000013.9:g.51440594T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 48038,
          "referenceAllele": "A",
          "start": 48037
        }
      ],
      "hgvs": [
        "NG_008806.1:g.48038A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001225"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1807,
          "referenceAllele": "A",
          "start": 1806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634296.2:c.1694A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489512.2:p.Asn565Ser",
        "hgvsWellDefined": "ENSP00000489512.2:p.Asn565Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914381"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2231,
          "referenceAllele": "A",
          "start": 2230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673864.2:c.*438A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501045.2:n.*438A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914449"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1807,
          "referenceAllele": "A",
          "start": 1806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674147.2:c.1694A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500964.2:p.Asn565Ser",
        "hgvsWellDefined": "ENSP00000500964.2:p.Asn565Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914453"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1807,
          "referenceAllele": "A",
          "start": 1806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000242839.10:c.1694A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242839.5:p.Asn565Ser",
        "hgvsWellDefined": "ENSP00000242839.5:p.Asn565Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741157",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242839.10:c.1694A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000053.4:c.1694A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242839.5:p.Asn565Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000044.2:p.Asn565Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1851,
          "referenceAllele": "A",
          "start": 1850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000344297.9:c.1694A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342559.5:p.Asn565Ser",
        "hgvsWellDefined": "ENSP00000342559.5:p.Asn565Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748204"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1361,
          "referenceAllele": "A",
          "start": 1360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400366.6:c.1361A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383217.3:p.Asn454Ser",
        "hgvsWellDefined": "ENSP00000383217.3:p.Asn454Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753917"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1947,
          "referenceAllele": "A",
          "start": 1946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000448424.7:c.1694A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416738.3:p.Asn565Ser",
        "hgvsWellDefined": "ENSP00000416738.3:p.Asn565Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756171"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 450,
          "referenceAllele": "A",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000483772.2:n.450A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757452"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1768,
          "referenceAllele": "A",
          "start": 1767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673772.1:c.1694A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501168.1:p.Asn565Ser",
        "hgvsWellDefined": "ENSP00000501168.1:p.Asn565Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773858"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 888,
          "referenceAllele": "A",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673864.1:c.888A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501045.1:n.888A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773926"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1250,
          "referenceAllele": "A",
          "start": 1249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674147.1:c.1250A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500964.1:p.Asn417Ser",
        "hgvsWellDefined": "ENSP00000500964.1:p.Asn417Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774163"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1851,
          "referenceAllele": "A",
          "start": 1850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000242839.8:c.1694A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242839.4:p.Asn565Ser",
        "hgvsWellDefined": "ENSP00000242839.4:p.Asn565Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249232"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1696,
          "referenceAllele": "A",
          "start": 1695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000344297.8:c.1694A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342559.5:p.Asn565Ser",
        "hgvsWellDefined": "ENSP00000342559.5:p.Asn565Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261940"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1518,
          "referenceAllele": "A",
          "start": 1517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400366.5:c.1361A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383217.3:p.Asn454Ser",
        "hgvsWellDefined": "ENSP00000383217.3:p.Asn454Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1359,
          "endIntronDirection": "+",
          "endIntronOffset": 5478,
          "referenceAllele": "A",
          "start": 1359,
          "startIntronDirection": "+",
          "startIntronOffset": 5477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400370.8:c.1285+5478A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383221.3:n.1285+5478A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1768,
          "referenceAllele": "A",
          "start": 1767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000418097.7:c.1694A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393343.2:p.Asn565Ser",
        "hgvsWellDefined": "ENSP00000393343.2:p.Asn565Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285231"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1851,
          "referenceAllele": "A",
          "start": 1850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000448424.6:c.1694A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416738.2:p.Asn565Ser",
        "hgvsWellDefined": "ENSP00000416738.2:p.Asn565Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299723"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1664,
          "endIntronDirection": "+",
          "endIntronOffset": 2035,
          "referenceAllele": "A",
          "start": 1664,
          "startIntronDirection": "+",
          "startIntronOffset": 2034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000482841.6:n.1664+2035A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322439"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 450,
          "referenceAllele": "A",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000483772.1:n.450A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323171"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1766,
          "referenceAllele": "A",
          "start": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634308.1:c.1694A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489234.1:p.Asn565Ser",
        "hgvsWellDefined": "ENSP00000489234.1:p.Asn565Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407771"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 186,
          "referenceAllele": "A",
          "start": 185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634620.1:n.186A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407886"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1768,
          "referenceAllele": "A",
          "start": 1767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634844.1:c.1694A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489398.1:p.Asn565Ser",
        "hgvsWellDefined": "ENSP00000489398.1:p.Asn565Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407955"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 211,
          "endIntronDirection": "-",
          "endIntronOffset": 21978,
          "referenceAllele": "A",
          "start": 211,
          "startIntronDirection": "-",
          "startIntronOffset": 21979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000635406.1:n.212-21979A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408123"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913191864",
      "coordinates": [
        {
          "allele": "G",
          "end": 1851,
          "referenceAllele": "A",
          "start": 1850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_000053.3:c.1694A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000044.2:p.Asn565Ser",
        "hgvsWellDefined": "NP_000044.2:p.Asn565Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006118"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825279505",
      "coordinates": [
        {
          "allele": "G",
          "end": 1851,
          "referenceAllele": "A",
          "start": 1850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001005918.2:c.1694A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005918.1:p.Asn565Ser",
        "hgvsWellDefined": "NP_001005918.1:p.Asn565Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007800"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826317498",
      "coordinates": [
        {
          "allele": "G",
          "end": 1518,
          "referenceAllele": "A",
          "start": 1517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001243182.1:c.1361A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230111.1:p.Asn454Ser",
        "hgvsWellDefined": "NP_001230111.1:p.Asn454Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018435"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1756,
          "referenceAllele": "A",
          "start": 1755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266423.2:c.1598A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266480.1:p.Asn533Ser",
        "hgvsWellDefined": "XP_005266480.1:p.Asn533Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065049"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1848,
          "referenceAllele": "A",
          "start": 1847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266424.3:c.1598A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266481.1:p.Asn533Ser",
        "hgvsWellDefined": "XP_005266481.1:p.Asn533Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065050"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1913,
          "referenceAllele": "A",
          "start": 1912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266427.2:c.1694A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266484.1:p.Asn565Ser",
        "hgvsWellDefined": "XP_005266484.1:p.Asn565Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065051"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1913,
          "referenceAllele": "A",
          "start": 1912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266428.1:c.1694A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266485.1:p.Asn565Ser",
        "hgvsWellDefined": "XP_005266485.1:p.Asn565Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065052"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1828,
          "referenceAllele": "A",
          "start": 1827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266430.3:c.1694A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266487.1:p.Asn565Ser",
        "hgvsWellDefined": "XP_005266487.1:p.Asn565Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065053"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1673,
          "referenceAllele": "A",
          "start": 1672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266431.2:c.1658A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266488.1:p.Asn553Ser",
        "hgvsWellDefined": "XP_005266488.1:p.Asn553Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065054"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1913,
          "referenceAllele": "A",
          "start": 1912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266432.2:c.1694A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266489.1:p.Asn565Ser",
        "hgvsWellDefined": "XP_005266489.1:p.Asn565Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065055"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1688,
          "referenceAllele": "A",
          "start": 1687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719837.2:c.1598A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719900.1:p.Asn533Ser",
        "hgvsWellDefined": "XP_006719900.1:p.Asn533Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073355"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1700,
          "referenceAllele": "A",
          "start": 1699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535117.1:c.1598A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533419.1:p.Asn533Ser",
        "hgvsWellDefined": "XP_011533419.1:p.Asn533Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102126"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1913,
          "referenceAllele": "A",
          "start": 1912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535118.1:c.1694A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533420.1:p.Asn565Ser",
        "hgvsWellDefined": "XP_011533420.1:p.Asn565Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102127"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1913,
          "referenceAllele": "A",
          "start": 1912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535119.1:c.1694A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533421.1:p.Asn565Ser",
        "hgvsWellDefined": "XP_011533421.1:p.Asn565Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102128"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1913,
          "referenceAllele": "A",
          "start": 1912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535120.1:c.1694A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533422.1:p.Asn565Ser",
        "hgvsWellDefined": "XP_011533422.1:p.Asn565Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102129"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1913,
          "referenceAllele": "A",
          "start": 1912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535121.1:c.1694A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533423.1:p.Asn565Ser",
        "hgvsWellDefined": "XP_011533423.1:p.Asn565Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102130"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 475,
          "referenceAllele": "A",
          "start": 474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535122.1:c.362A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533424.1:p.Asn121Ser",
        "hgvsWellDefined": "XP_011533424.1:p.Asn121Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102131"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1913,
          "referenceAllele": "A",
          "start": 1912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941601.1:n.1913A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136194"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1913,
          "referenceAllele": "A",
          "start": 1912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941602.1:n.1913A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136195"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1913,
          "referenceAllele": "A",
          "start": 1912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941603.1:n.1913A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136196"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1913,
          "referenceAllele": "A",
          "start": 1912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941604.1:n.1913A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136197"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827325593",
      "coordinates": [
        {
          "allele": "G",
          "end": 1851,
          "referenceAllele": "A",
          "start": 1850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.1:c.1694A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:p.Asn565Ser",
        "hgvsWellDefined": "NP_001317507.1:p.Asn565Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516930"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916028397",
      "coordinates": [
        {
          "allele": "G",
          "end": 1851,
          "referenceAllele": "A",
          "start": 1850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330579.1:c.1694A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317508.1:p.Asn565Ser",
        "hgvsWellDefined": "NP_001317508.1:p.Asn565Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516931"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2377,
          "referenceAllele": "A",
          "start": 2376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266424.4:c.1598A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266481.1:p.Asn533Ser",
        "hgvsWellDefined": "XP_005266481.1:p.Asn533Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536236"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1859,
          "referenceAllele": "A",
          "start": 1858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266430.4:c.1694A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266487.1:p.Asn565Ser",
        "hgvsWellDefined": "XP_005266487.1:p.Asn565Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536237"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4743,
          "referenceAllele": "A",
          "start": 4742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266431.4:c.1658A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266488.1:p.Asn553Ser",
        "hgvsWellDefined": "XP_005266488.1:p.Asn553Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536238"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2005,
          "referenceAllele": "A",
          "start": 2004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719837.3:c.1598A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719900.1:p.Asn533Ser",
        "hgvsWellDefined": "XP_006719900.1:p.Asn533Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539964"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2940,
          "referenceAllele": "A",
          "start": 2939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535117.3:c.1598A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533419.1:p.Asn533Ser",
        "hgvsWellDefined": "XP_011533419.1:p.Asn533Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551907"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1755,
          "referenceAllele": "A",
          "start": 1754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_017020627.1:c.1598A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876116.1:p.Asn533Ser",
        "hgvsWellDefined": "XP_016876116.1:p.Asn533Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913191864",
      "coordinates": [
        {
          "allele": "G",
          "end": 1807,
          "referenceAllele": "A",
          "start": 1806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_000053.4:c.1694A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000044.2:p.Asn565Ser",
        "hgvsWellDefined": "NP_000044.2:p.Asn565Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674679",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242839.10:c.1694A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000053.4:c.1694A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242839.5:p.Asn565Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000044.2:p.Asn565Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825279505",
      "coordinates": [
        {
          "allele": "G",
          "end": 1807,
          "referenceAllele": "A",
          "start": 1806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001005918.3:c.1694A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005918.1:p.Asn565Ser",
        "hgvsWellDefined": "NP_001005918.1:p.Asn565Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675222"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916028397",
      "coordinates": [
        {
          "allele": "G",
          "end": 1807,
          "referenceAllele": "A",
          "start": 1806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330579.2:c.1694A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317508.1:p.Asn565Ser",
        "hgvsWellDefined": "NP_001317508.1:p.Asn565Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826317498",
      "coordinates": [
        {
          "allele": "G",
          "end": 1474,
          "referenceAllele": "A",
          "start": 1473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001243182.2:c.1361A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230111.1:p.Asn454Ser",
        "hgvsWellDefined": "NP_001230111.1:p.Asn454Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714450"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827325593",
      "coordinates": [
        {
          "allele": "G",
          "end": 1807,
          "referenceAllele": "A",
          "start": 1806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.2:c.1694A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:p.Asn565Ser",
        "hgvsWellDefined": "NP_001317507.1:p.Asn565Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718719"
    }
  ],
  "type": "nucleotide"
}