{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA388030552",
  "communityStandardTitle": [
    "NM_000053.4(ATP7B):c.3088G>A (p.Gly1030Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=926944[alleleid]",
        "alleleId": 926944,
        "preferredName": "NM_000053.4(ATP7B):c.3088G>A (p.Gly1030Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/949397",
        "RCV": [
          "RCV001220850"
        ],
        "variationId": 949397
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.52518400C>T?assembly=hg19",
        "id": "chr13:g.52518400C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.51944264C>T?assembly=hg38",
        "id": "chr13:g.51944264C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1957518268",
        "rs": 1957518268
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-51944264-C-T?dataset=gnomad_r4",
        "id": "13-51944264-C-T",
        "variant": "13:51944264 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 51944264,
          "referenceAllele": "C",
          "start": 51944263
        }
      ],
      "hgvs": [
        "NC_000013.11:g.51944264C>T",
        "CM000675.2:g.51944264C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 52518400,
          "referenceAllele": "C",
          "start": 52518399
        }
      ],
      "hgvs": [
        "NC_000013.10:g.52518400C>T",
        "CM000675.1:g.52518400C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 51416401,
          "referenceAllele": "C",
          "start": 51416400
        }
      ],
      "hgvs": [
        "NC_000013.9:g.51416401C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 72231,
          "referenceAllele": "G",
          "start": 72230
        }
      ],
      "hgvs": [
        "NG_008806.1:g.72231G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001225"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2998,
          "endIntronDirection": "-",
          "endIntronOffset": 1709,
          "referenceAllele": "G",
          "start": 2998,
          "startIntronDirection": "-",
          "startIntronOffset": 1710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634296.2:c.*894-1710G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489512.2:n.*894-1710G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914381"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3625,
          "referenceAllele": "G",
          "start": 3624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673864.2:c.*1832G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501045.2:n.*1832G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914449"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2580,
          "referenceAllele": "G",
          "start": 2579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674147.2:c.2467G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500964.2:p.Gly823Ser",
        "hgvsWellDefined": "ENSP00000500964.2:p.Gly823Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914453"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3201,
          "referenceAllele": "G",
          "start": 3200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000242839.10:c.3088G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242839.5:p.Gly1030Ser",
        "hgvsWellDefined": "ENSP00000242839.5:p.Gly1030Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741157",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242839.10:c.3088G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000053.4:c.3088G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242839.5:p.Gly1030Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000044.2:p.Gly1030Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2624,
          "referenceAllele": "G",
          "start": 2623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000344297.9:c.2467G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342559.5:p.Gly823Ser",
        "hgvsWellDefined": "ENSP00000342559.5:p.Gly823Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2755,
          "referenceAllele": "G",
          "start": 2754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400366.6:c.2755G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383217.3:p.Gly919Ser",
        "hgvsWellDefined": "ENSP00000383217.3:p.Gly919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753917"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3089,
          "referenceAllele": "G",
          "start": 3088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000448424.7:c.2836G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416738.3:p.Gly946Ser",
        "hgvsWellDefined": "ENSP00000416738.3:p.Gly946Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756171"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2928,
          "referenceAllele": "G",
          "start": 2927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673772.1:c.2854G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501168.1:p.Gly952Ser",
        "hgvsWellDefined": "ENSP00000501168.1:p.Gly952Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773858"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3227,
          "referenceAllele": "G",
          "start": 3226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673867.1:n.3227G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773928"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3451,
          "referenceAllele": "G",
          "start": 3450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674126.1:n.3451G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774145"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2023,
          "referenceAllele": "G",
          "start": 2022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674147.1:c.2023G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500964.1:p.Gly675Ser",
        "hgvsWellDefined": "ENSP00000500964.1:p.Gly675Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774163"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3245,
          "referenceAllele": "G",
          "start": 3244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000242839.8:c.3088G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242839.4:p.Gly1030Ser",
        "hgvsWellDefined": "ENSP00000242839.4:p.Gly1030Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249232"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2469,
          "referenceAllele": "G",
          "start": 2468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000344297.8:c.2467G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342559.5:p.Gly823Ser",
        "hgvsWellDefined": "ENSP00000342559.5:p.Gly823Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261940"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2912,
          "referenceAllele": "G",
          "start": 2911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400366.5:c.2755G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383217.3:p.Gly919Ser",
        "hgvsWellDefined": "ENSP00000383217.3:p.Gly919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1872,
          "referenceAllele": "G",
          "start": 1871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400370.8:c.1798G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383221.3:p.Gly600Ser",
        "hgvsWellDefined": "ENSP00000383221.3:p.Gly600Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2967,
          "referenceAllele": "G",
          "start": 2966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000418097.7:c.2893G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393343.2:p.Gly965Ser",
        "hgvsWellDefined": "ENSP00000393343.2:p.Gly965Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285231"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3011,
          "referenceAllele": "G",
          "start": 3010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000448424.6:c.2854G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416738.2:p.Gly952Ser",
        "hgvsWellDefined": "ENSP00000416738.2:p.Gly952Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299723"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 308,
          "referenceAllele": "G",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000466629.1:n.308G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309954"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1021,
          "endIntronDirection": "-",
          "endIntronOffset": 1709,
          "referenceAllele": "G",
          "start": 1021,
          "startIntronDirection": "-",
          "startIntronOffset": 1710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634296.1:c.1022-1710G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407767"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2946,
          "referenceAllele": "G",
          "start": 2945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634308.1:c.*189G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489234.1:n.*189G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407771"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3832,
          "referenceAllele": "G",
          "start": 3831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634620.1:n.3832G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407886"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2433,
          "referenceAllele": "G",
          "start": 2432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634810.1:n.2433G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407945"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3018,
          "referenceAllele": "G",
          "start": 3017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634844.1:c.2944G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489398.1:p.Gly982Ser",
        "hgvsWellDefined": "ENSP00000489398.1:p.Gly982Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407955"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 434,
          "referenceAllele": "G",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000635406.1:n.434G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408123"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825038656",
      "coordinates": [
        {
          "allele": "A",
          "end": 3245,
          "referenceAllele": "G",
          "start": 3244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_000053.3:c.3088G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000044.2:p.Gly1030Ser",
        "hgvsWellDefined": "NP_000044.2:p.Gly1030Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006118"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825279844",
      "coordinates": [
        {
          "allele": "A",
          "end": 2624,
          "referenceAllele": "G",
          "start": 2623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001005918.2:c.2467G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005918.1:p.Gly823Ser",
        "hgvsWellDefined": "NP_001005918.1:p.Gly823Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007800"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826318129",
      "coordinates": [
        {
          "allele": "A",
          "end": 2912,
          "referenceAllele": "G",
          "start": 2911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001243182.1:c.2755G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230111.1:p.Gly919Ser",
        "hgvsWellDefined": "NP_001230111.1:p.Gly919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018435"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3150,
          "referenceAllele": "G",
          "start": 3149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266423.2:c.2992G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266480.1:p.Gly998Ser",
        "hgvsWellDefined": "XP_005266480.1:p.Gly998Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065049"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3242,
          "referenceAllele": "G",
          "start": 3241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266424.3:c.2992G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266481.1:p.Gly998Ser",
        "hgvsWellDefined": "XP_005266481.1:p.Gly998Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065050"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3073,
          "referenceAllele": "G",
          "start": 3072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266427.2:c.2854G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266484.1:p.Gly952Ser",
        "hgvsWellDefined": "XP_005266484.1:p.Gly952Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065051"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3055,
          "referenceAllele": "G",
          "start": 3054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266428.1:c.2836G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266485.1:p.Gly946Ser",
        "hgvsWellDefined": "XP_005266485.1:p.Gly946Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065052"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3222,
          "referenceAllele": "G",
          "start": 3221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266430.3:c.3088G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266487.1:p.Gly1030Ser",
        "hgvsWellDefined": "XP_005266487.1:p.Gly1030Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065053"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3067,
          "referenceAllele": "G",
          "start": 3066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266431.2:c.3052G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266488.1:p.Gly1018Ser",
        "hgvsWellDefined": "XP_005266488.1:p.Gly1018Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065054"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2821,
          "referenceAllele": "G",
          "start": 2820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266432.2:c.2602G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266489.1:p.Gly868Ser",
        "hgvsWellDefined": "XP_005266489.1:p.Gly868Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065055"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3082,
          "referenceAllele": "G",
          "start": 3081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719837.2:c.2992G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719900.1:p.Gly998Ser",
        "hgvsWellDefined": "XP_006719900.1:p.Gly998Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073355"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1040,
          "referenceAllele": "G",
          "start": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719838.1:c.904G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719901.1:p.Gly302Ser",
        "hgvsWellDefined": "XP_006719901.1:p.Gly302Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073356"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1012,
          "endIntronDirection": "-",
          "endIntronOffset": 1709,
          "referenceAllele": "G",
          "start": 1012,
          "startIntronDirection": "-",
          "startIntronOffset": 1710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719839.1:c.877-1710G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719902.1:n.877-1710G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073357"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3094,
          "referenceAllele": "G",
          "start": 3093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535117.1:c.2992G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533419.1:p.Gly998Ser",
        "hgvsWellDefined": "XP_011533419.1:p.Gly998Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102126"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3172,
          "referenceAllele": "G",
          "start": 3171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535118.1:c.2953G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533420.1:p.Gly985Ser",
        "hgvsWellDefined": "XP_011533420.1:p.Gly985Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3279,
          "endIntronDirection": "-",
          "endIntronOffset": 1709,
          "referenceAllele": "G",
          "start": 3279,
          "startIntronDirection": "-",
          "startIntronOffset": 1710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535119.1:c.3061-1710G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533421.1:n.3061-1710G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2893,
          "referenceAllele": "G",
          "start": 2892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535120.1:c.2674G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533422.1:p.Gly892Ser",
        "hgvsWellDefined": "XP_011533422.1:p.Gly892Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102129"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2949,
          "endIntronDirection": "-",
          "endIntronOffset": 1709,
          "referenceAllele": "G",
          "start": 2949,
          "startIntronDirection": "-",
          "startIntronOffset": 1710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535121.1:c.2731-1710G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533423.1:n.2731-1710G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102130"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1869,
          "referenceAllele": "G",
          "start": 1868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535122.1:c.1756G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533424.1:p.Gly586Ser",
        "hgvsWellDefined": "XP_011533424.1:p.Gly586Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102131"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3307,
          "referenceAllele": "G",
          "start": 3306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941601.1:n.3307G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136194"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3307,
          "referenceAllele": "G",
          "start": 3306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941602.1:n.3307G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136195"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3307,
          "referenceAllele": "G",
          "start": 3306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941603.1:n.3307G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136196"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3307,
          "referenceAllele": "G",
          "start": 3306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941604.1:n.3307G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136197"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139697437",
      "coordinates": [
        {
          "allele": "A",
          "end": 3011,
          "referenceAllele": "G",
          "start": 3010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.1:c.2854G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:p.Gly952Ser",
        "hgvsWellDefined": "NP_001317507.1:p.Gly952Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516930"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827329649",
      "coordinates": [
        {
          "allele": "A",
          "end": 2993,
          "referenceAllele": "G",
          "start": 2992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330579.1:c.2836G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317508.1:p.Gly946Ser",
        "hgvsWellDefined": "NP_001317508.1:p.Gly946Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516931"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3771,
          "referenceAllele": "G",
          "start": 3770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266424.4:c.2992G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266481.1:p.Gly998Ser",
        "hgvsWellDefined": "XP_005266481.1:p.Gly998Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536236"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3253,
          "referenceAllele": "G",
          "start": 3252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266430.4:c.3088G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266487.1:p.Gly1030Ser",
        "hgvsWellDefined": "XP_005266487.1:p.Gly1030Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536237"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6137,
          "referenceAllele": "G",
          "start": 6136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266431.4:c.3052G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266488.1:p.Gly1018Ser",
        "hgvsWellDefined": "XP_005266488.1:p.Gly1018Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536238"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3399,
          "referenceAllele": "G",
          "start": 3398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719837.3:c.2992G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719900.1:p.Gly998Ser",
        "hgvsWellDefined": "XP_006719900.1:p.Gly998Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539964"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4334,
          "referenceAllele": "G",
          "start": 4333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535117.3:c.2992G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533419.1:p.Gly998Ser",
        "hgvsWellDefined": "XP_011533419.1:p.Gly998Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551907"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3149,
          "referenceAllele": "G",
          "start": 3148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_017020627.1:c.2992G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876116.1:p.Gly998Ser",
        "hgvsWellDefined": "XP_016876116.1:p.Gly998Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825038656",
      "coordinates": [
        {
          "allele": "A",
          "end": 3201,
          "referenceAllele": "G",
          "start": 3200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_000053.4:c.3088G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000044.2:p.Gly1030Ser",
        "hgvsWellDefined": "NP_000044.2:p.Gly1030Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674679",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242839.10:c.3088G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000053.4:c.3088G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242839.5:p.Gly1030Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000044.2:p.Gly1030Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825279844",
      "coordinates": [
        {
          "allele": "A",
          "end": 2580,
          "referenceAllele": "G",
          "start": 2579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001005918.3:c.2467G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005918.1:p.Gly823Ser",
        "hgvsWellDefined": "NP_001005918.1:p.Gly823Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675222"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827329649",
      "coordinates": [
        {
          "allele": "A",
          "end": 2949,
          "referenceAllele": "G",
          "start": 2948
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330579.2:c.2836G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317508.1:p.Gly946Ser",
        "hgvsWellDefined": "NP_001317508.1:p.Gly946Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826318129",
      "coordinates": [
        {
          "allele": "A",
          "end": 2868,
          "referenceAllele": "G",
          "start": 2867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001243182.2:c.2755G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230111.1:p.Gly919Ser",
        "hgvsWellDefined": "NP_001230111.1:p.Gly919Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714450"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139697437",
      "coordinates": [
        {
          "allele": "A",
          "end": 2967,
          "referenceAllele": "G",
          "start": 2966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.2:c.2854G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:p.Gly952Ser",
        "hgvsWellDefined": "NP_001317507.1:p.Gly952Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718719"
    }
  ],
  "type": "nucleotide"
}