{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA351338",
  "communityStandardTitle": [
    "NM_000053.4(ATP7B):c.3526G>A (p.Gly1176Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=38430[alleleid]",
        "alleleId": 38430,
        "preferredName": "NM_000053.4(ATP7B):c.3526G>A (p.Gly1176Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/50883",
        "RCV": [
          "RCV001852911"
        ],
        "variationId": 50883
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.52515247C>T?assembly=hg19",
        "id": "chr13:g.52515247C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.51941111C>T?assembly=hg38",
        "id": "chr13:g.51941111C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137853279",
        "rs": 137853279
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 51941111,
          "referenceAllele": "C",
          "start": 51941110
        }
      ],
      "hgvs": [
        "NC_000013.11:g.51941111C>T",
        "CM000675.2:g.51941111C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 52515247,
          "referenceAllele": "C",
          "start": 52515246
        }
      ],
      "hgvs": [
        "NC_000013.10:g.52515247C>T",
        "CM000675.1:g.52515247C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 51413248,
          "referenceAllele": "C",
          "start": 51413247
        }
      ],
      "hgvs": [
        "NC_000013.9:g.51413248C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 75384,
          "referenceAllele": "G",
          "start": 75383
        }
      ],
      "hgvs": [
        "NG_008806.1:g.75384G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001225"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3281,
          "referenceAllele": "G",
          "start": 3280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634296.2:c.*1176G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489512.2:n.*1176G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914381"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4063,
          "referenceAllele": "G",
          "start": 4062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673864.2:c.*2270G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501045.2:n.*2270G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914449"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3018,
          "referenceAllele": "G",
          "start": 3017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674147.2:c.2905G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500964.2:p.Gly969Arg",
        "hgvsWellDefined": "ENSP00000500964.2:p.Gly969Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914453"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3639,
          "referenceAllele": "G",
          "start": 3638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000242839.10:c.3526G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242839.5:p.Gly1176Arg",
        "hgvsWellDefined": "ENSP00000242839.5:p.Gly1176Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741157",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242839.10:c.3526G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000053.4:c.3526G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242839.5:p.Gly1176Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000044.2:p.Gly1176Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3062,
          "referenceAllele": "G",
          "start": 3061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000344297.9:c.2905G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342559.5:p.Gly969Arg",
        "hgvsWellDefined": "ENSP00000342559.5:p.Gly969Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3193,
          "referenceAllele": "G",
          "start": 3192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400366.6:c.3193G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383217.3:p.Gly1065Arg",
        "hgvsWellDefined": "ENSP00000383217.3:p.Gly1065Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753917"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3527,
          "referenceAllele": "G",
          "start": 3526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000448424.7:c.3274G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416738.3:p.Gly1092Arg",
        "hgvsWellDefined": "ENSP00000416738.3:p.Gly1092Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756171"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3366,
          "referenceAllele": "G",
          "start": 3365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673772.1:c.3292G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501168.1:p.Gly1098Arg",
        "hgvsWellDefined": "ENSP00000501168.1:p.Gly1098Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773858"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3665,
          "referenceAllele": "G",
          "start": 3664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673867.1:n.3665G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773928"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3889,
          "referenceAllele": "G",
          "start": 3888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674126.1:n.3889G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774145"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2461,
          "referenceAllele": "G",
          "start": 2460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674147.1:c.2461G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500964.1:p.Gly821Arg",
        "hgvsWellDefined": "ENSP00000500964.1:p.Gly821Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774163"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3683,
          "referenceAllele": "G",
          "start": 3682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000242839.8:c.3526G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242839.4:p.Gly1176Arg",
        "hgvsWellDefined": "ENSP00000242839.4:p.Gly1176Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249232"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2907,
          "referenceAllele": "G",
          "start": 2906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000344297.8:c.2905G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342559.5:p.Gly969Arg",
        "hgvsWellDefined": "ENSP00000342559.5:p.Gly969Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261940"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3350,
          "referenceAllele": "G",
          "start": 3349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400366.5:c.3193G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383217.3:p.Gly1065Arg",
        "hgvsWellDefined": "ENSP00000383217.3:p.Gly1065Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2310,
          "referenceAllele": "G",
          "start": 2309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400370.8:c.2236G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383221.3:p.Gly746Arg",
        "hgvsWellDefined": "ENSP00000383221.3:p.Gly746Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3405,
          "referenceAllele": "G",
          "start": 3404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000418097.7:c.3331G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393343.2:p.Gly1111Arg",
        "hgvsWellDefined": "ENSP00000393343.2:p.Gly1111Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285231"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3449,
          "referenceAllele": "G",
          "start": 3448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000448424.6:c.3292G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416738.2:p.Gly1098Arg",
        "hgvsWellDefined": "ENSP00000416738.2:p.Gly1098Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299723"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1304,
          "referenceAllele": "G",
          "start": 1303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634296.1:c.1304G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407767"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3384,
          "referenceAllele": "G",
          "start": 3383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634308.1:c.*627G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489234.1:n.*627G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407771"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4270,
          "referenceAllele": "G",
          "start": 4269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634620.1:n.4270G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407886"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2871,
          "referenceAllele": "G",
          "start": 2870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634810.1:n.2871G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407945"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3456,
          "referenceAllele": "G",
          "start": 3455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634844.1:c.3382G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489398.1:p.Gly1128Arg",
        "hgvsWellDefined": "ENSP00000489398.1:p.Gly1128Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407955"
    },
    {
      "@id": "http://reg.genome.network/allele/PA091883",
      "coordinates": [
        {
          "allele": "A",
          "end": 3683,
          "referenceAllele": "G",
          "start": 3682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_000053.3:c.3526G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000044.2:p.Gly1176Arg",
        "hgvsWellDefined": "NP_000044.2:p.Gly1176Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006118"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915955088",
      "coordinates": [
        {
          "allele": "A",
          "end": 3062,
          "referenceAllele": "G",
          "start": 3061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001005918.2:c.2905G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005918.1:p.Gly969Arg",
        "hgvsWellDefined": "NP_001005918.1:p.Gly969Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007800"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826318326",
      "coordinates": [
        {
          "allele": "A",
          "end": 3350,
          "referenceAllele": "G",
          "start": 3349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001243182.1:c.3193G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230111.1:p.Gly1065Arg",
        "hgvsWellDefined": "NP_001230111.1:p.Gly1065Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018435"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3588,
          "referenceAllele": "G",
          "start": 3587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266423.2:c.3430G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266480.1:p.Gly1144Arg",
        "hgvsWellDefined": "XP_005266480.1:p.Gly1144Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065049"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3680,
          "referenceAllele": "G",
          "start": 3679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266424.3:c.3430G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266481.1:p.Gly1144Arg",
        "hgvsWellDefined": "XP_005266481.1:p.Gly1144Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065050"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3511,
          "referenceAllele": "G",
          "start": 3510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266427.2:c.3292G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266484.1:p.Gly1098Arg",
        "hgvsWellDefined": "XP_005266484.1:p.Gly1098Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065051"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3493,
          "referenceAllele": "G",
          "start": 3492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266428.1:c.3274G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266485.1:p.Gly1092Arg",
        "hgvsWellDefined": "XP_005266485.1:p.Gly1092Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065052"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3660,
          "referenceAllele": "G",
          "start": 3659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266430.3:c.3526G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266487.1:p.Gly1176Arg",
        "hgvsWellDefined": "XP_005266487.1:p.Gly1176Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065053"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3505,
          "referenceAllele": "G",
          "start": 3504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266431.2:c.3490G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266488.1:p.Gly1164Arg",
        "hgvsWellDefined": "XP_005266488.1:p.Gly1164Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065054"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3259,
          "referenceAllele": "G",
          "start": 3258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266432.2:c.3040G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266489.1:p.Gly1014Arg",
        "hgvsWellDefined": "XP_005266489.1:p.Gly1014Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065055"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3520,
          "referenceAllele": "G",
          "start": 3519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719837.2:c.3430G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719900.1:p.Gly1144Arg",
        "hgvsWellDefined": "XP_006719900.1:p.Gly1144Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073355"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1478,
          "referenceAllele": "G",
          "start": 1477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719838.1:c.1342G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719901.1:p.Gly448Arg",
        "hgvsWellDefined": "XP_006719901.1:p.Gly448Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073356"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1295,
          "referenceAllele": "G",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719839.1:c.1159G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719902.1:p.Gly387Arg",
        "hgvsWellDefined": "XP_006719902.1:p.Gly387Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073357"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3532,
          "referenceAllele": "G",
          "start": 3531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535117.1:c.3430G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533419.1:p.Gly1144Arg",
        "hgvsWellDefined": "XP_011533419.1:p.Gly1144Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102126"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3610,
          "referenceAllele": "G",
          "start": 3609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535118.1:c.3391G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533420.1:p.Gly1131Arg",
        "hgvsWellDefined": "XP_011533420.1:p.Gly1131Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3562,
          "referenceAllele": "G",
          "start": 3561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535119.1:c.3343G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533421.1:p.Gly1115Arg",
        "hgvsWellDefined": "XP_011533421.1:p.Gly1115Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3331,
          "referenceAllele": "G",
          "start": 3330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535120.1:c.3112G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533422.1:p.Gly1038Arg",
        "hgvsWellDefined": "XP_011533422.1:p.Gly1038Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102129"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3232,
          "referenceAllele": "G",
          "start": 3231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535121.1:c.3013G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533423.1:p.Gly1005Arg",
        "hgvsWellDefined": "XP_011533423.1:p.Gly1005Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102130"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2307,
          "referenceAllele": "G",
          "start": 2306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535122.1:c.2194G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533424.1:p.Gly732Arg",
        "hgvsWellDefined": "XP_011533424.1:p.Gly732Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102131"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3745,
          "referenceAllele": "G",
          "start": 3744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941601.1:n.3745G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136194"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3745,
          "referenceAllele": "G",
          "start": 3744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941602.1:n.3745G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136195"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3745,
          "referenceAllele": "G",
          "start": 3744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941603.1:n.3745G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136196"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3745,
          "referenceAllele": "G",
          "start": 3744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941604.1:n.3745G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136197"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827326848",
      "coordinates": [
        {
          "allele": "A",
          "end": 3449,
          "referenceAllele": "G",
          "start": 3448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.1:c.3292G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:p.Gly1098Arg",
        "hgvsWellDefined": "NP_001317507.1:p.Gly1098Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516930"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827329947",
      "coordinates": [
        {
          "allele": "A",
          "end": 3431,
          "referenceAllele": "G",
          "start": 3430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330579.1:c.3274G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317508.1:p.Gly1092Arg",
        "hgvsWellDefined": "NP_001317508.1:p.Gly1092Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516931"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4209,
          "referenceAllele": "G",
          "start": 4208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266424.4:c.3430G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266481.1:p.Gly1144Arg",
        "hgvsWellDefined": "XP_005266481.1:p.Gly1144Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536236"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3691,
          "referenceAllele": "G",
          "start": 3690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266430.4:c.3526G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266487.1:p.Gly1176Arg",
        "hgvsWellDefined": "XP_005266487.1:p.Gly1176Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536237"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6575,
          "referenceAllele": "G",
          "start": 6574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266431.4:c.3490G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266488.1:p.Gly1164Arg",
        "hgvsWellDefined": "XP_005266488.1:p.Gly1164Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536238"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3837,
          "referenceAllele": "G",
          "start": 3836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719837.3:c.3430G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719900.1:p.Gly1144Arg",
        "hgvsWellDefined": "XP_006719900.1:p.Gly1144Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539964"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4772,
          "referenceAllele": "G",
          "start": 4771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535117.3:c.3430G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533419.1:p.Gly1144Arg",
        "hgvsWellDefined": "XP_011533419.1:p.Gly1144Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551907"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3587,
          "referenceAllele": "G",
          "start": 3586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_017020627.1:c.3430G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876116.1:p.Gly1144Arg",
        "hgvsWellDefined": "XP_016876116.1:p.Gly1144Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA091883",
      "coordinates": [
        {
          "allele": "A",
          "end": 3639,
          "referenceAllele": "G",
          "start": 3638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_000053.4:c.3526G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000044.2:p.Gly1176Arg",
        "hgvsWellDefined": "NP_000044.2:p.Gly1176Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674679",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242839.10:c.3526G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000053.4:c.3526G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242839.5:p.Gly1176Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000044.2:p.Gly1176Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915955088",
      "coordinates": [
        {
          "allele": "A",
          "end": 3018,
          "referenceAllele": "G",
          "start": 3017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001005918.3:c.2905G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005918.1:p.Gly969Arg",
        "hgvsWellDefined": "NP_001005918.1:p.Gly969Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675222"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827329947",
      "coordinates": [
        {
          "allele": "A",
          "end": 3387,
          "referenceAllele": "G",
          "start": 3386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330579.2:c.3274G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317508.1:p.Gly1092Arg",
        "hgvsWellDefined": "NP_001317508.1:p.Gly1092Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826318326",
      "coordinates": [
        {
          "allele": "A",
          "end": 3306,
          "referenceAllele": "G",
          "start": 3305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001243182.2:c.3193G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230111.1:p.Gly1065Arg",
        "hgvsWellDefined": "NP_001230111.1:p.Gly1065Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714450"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827326848",
      "coordinates": [
        {
          "allele": "A",
          "end": 3405,
          "referenceAllele": "G",
          "start": 3404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.2:c.3292G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:p.Gly1098Arg",
        "hgvsWellDefined": "NP_001317507.1:p.Gly1098Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718719"
    }
  ],
  "type": "nucleotide"
}