{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA388034710",
  "communityStandardTitle": [
    "NM_000053.4(ATP7B):c.2634T>G (p.Asn878Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2737507[alleleid]",
        "alleleId": 2737507,
        "preferredName": "NM_000053.4(ATP7B):c.2634T>G (p.Asn878Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2572561",
        "RCV": [
          "RCV003314446"
        ],
        "variationId": 2572561
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.52524239A>C?assembly=hg19",
        "id": "chr13:g.52524239A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.51950103A>C?assembly=hg38",
        "id": "chr13:g.51950103A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2547671027",
        "rs": 2547671027
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 51950103,
          "referenceAllele": "A",
          "start": 51950102
        }
      ],
      "hgvs": [
        "NC_000013.11:g.51950103A>C",
        "CM000675.2:g.51950103A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 52524239,
          "referenceAllele": "A",
          "start": 52524238
        }
      ],
      "hgvs": [
        "NC_000013.10:g.52524239A>C",
        "CM000675.1:g.52524239A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 51422240,
          "referenceAllele": "A",
          "start": 51422239
        }
      ],
      "hgvs": [
        "NC_000013.9:g.51422240A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 66392,
          "referenceAllele": "T",
          "start": 66391
        }
      ],
      "hgvs": [
        "NG_008806.1:g.66392T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001225"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2572,
          "referenceAllele": "T",
          "start": 2571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634296.2:c.*467T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489512.2:n.*467T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914381"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3171,
          "referenceAllele": "T",
          "start": 3170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673864.2:c.*1378T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501045.2:n.*1378T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914449"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2261,
          "referenceAllele": "T",
          "start": 2260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674147.2:c.2148T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500964.2:p.Asn716Lys",
        "hgvsWellDefined": "ENSP00000500964.2:p.Asn716Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914453"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2747,
          "referenceAllele": "T",
          "start": 2746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000242839.10:c.2634T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242839.5:p.Asn878Lys",
        "hgvsWellDefined": "ENSP00000242839.5:p.Asn878Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741157",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242839.10:c.2634T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000053.4:c.2634T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242839.5:p.Asn878Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000044.2:p.Asn878Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2305,
          "referenceAllele": "T",
          "start": 2304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000344297.9:c.2148T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342559.5:p.Asn716Lys",
        "hgvsWellDefined": "ENSP00000342559.5:p.Asn716Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748204"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2301,
          "referenceAllele": "T",
          "start": 2300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400366.6:c.2301T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383217.3:p.Asn767Lys",
        "hgvsWellDefined": "ENSP00000383217.3:p.Asn767Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753917"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2635,
          "referenceAllele": "T",
          "start": 2634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000448424.7:c.2382T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416738.3:p.Asn794Lys",
        "hgvsWellDefined": "ENSP00000416738.3:p.Asn794Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756171"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2474,
          "referenceAllele": "T",
          "start": 2473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673772.1:c.2400T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501168.1:p.Asn800Lys",
        "hgvsWellDefined": "ENSP00000501168.1:p.Asn800Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773858"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1704,
          "referenceAllele": "T",
          "start": 1703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674147.1:c.1704T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500964.1:p.Asn568Lys",
        "hgvsWellDefined": "ENSP00000500964.1:p.Asn568Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774163"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2791,
          "referenceAllele": "T",
          "start": 2790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000242839.8:c.2634T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242839.4:p.Asn878Lys",
        "hgvsWellDefined": "ENSP00000242839.4:p.Asn878Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249232"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2150,
          "referenceAllele": "T",
          "start": 2149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000344297.8:c.2148T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342559.5:p.Asn716Lys",
        "hgvsWellDefined": "ENSP00000342559.5:p.Asn716Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261940"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2458,
          "referenceAllele": "T",
          "start": 2457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400366.5:c.2301T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383217.3:p.Asn767Lys",
        "hgvsWellDefined": "ENSP00000383217.3:p.Asn767Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1418,
          "referenceAllele": "T",
          "start": 1417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400370.8:c.1344T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383221.3:p.Asn448Lys",
        "hgvsWellDefined": "ENSP00000383221.3:p.Asn448Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2708,
          "referenceAllele": "T",
          "start": 2707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000418097.7:c.2634T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393343.2:p.Asn878Lys",
        "hgvsWellDefined": "ENSP00000393343.2:p.Asn878Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285231"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2557,
          "referenceAllele": "T",
          "start": 2556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000448424.6:c.2400T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416738.2:p.Asn800Lys",
        "hgvsWellDefined": "ENSP00000416738.2:p.Asn800Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299723"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 595,
          "referenceAllele": "T",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634296.1:c.595T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407767"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2472,
          "referenceAllele": "T",
          "start": 2471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634308.1:c.2400T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489234.1:p.Asn800Lys",
        "hgvsWellDefined": "ENSP00000489234.1:p.Asn800Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407771"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3432,
          "referenceAllele": "T",
          "start": 3431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634620.1:n.3432T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407886"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1979,
          "referenceAllele": "T",
          "start": 1978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634810.1:n.1979T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407945"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2564,
          "referenceAllele": "T",
          "start": 2563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634844.1:c.2490T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489398.1:p.Asn830Lys",
        "hgvsWellDefined": "ENSP00000489398.1:p.Asn830Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407955"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 211,
          "endIntronDirection": "-",
          "endIntronOffset": 3624,
          "referenceAllele": "T",
          "start": 211,
          "startIntronDirection": "-",
          "startIntronOffset": 3625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000635406.1:n.212-3625T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408123"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825038505",
      "coordinates": [
        {
          "allele": "G",
          "end": 2791,
          "referenceAllele": "T",
          "start": 2790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_000053.3:c.2634T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000044.2:p.Asn878Lys",
        "hgvsWellDefined": "NP_000044.2:p.Asn878Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006118"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825279683",
      "coordinates": [
        {
          "allele": "G",
          "end": 2305,
          "referenceAllele": "T",
          "start": 2304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001005918.2:c.2148T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005918.1:p.Asn716Lys",
        "hgvsWellDefined": "NP_001005918.1:p.Asn716Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007800"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826317904",
      "coordinates": [
        {
          "allele": "G",
          "end": 2458,
          "referenceAllele": "T",
          "start": 2457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001243182.1:c.2301T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230111.1:p.Asn767Lys",
        "hgvsWellDefined": "NP_001230111.1:p.Asn767Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018435"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2696,
          "referenceAllele": "T",
          "start": 2695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266423.2:c.2538T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266480.1:p.Asn846Lys",
        "hgvsWellDefined": "XP_005266480.1:p.Asn846Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065049"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2788,
          "referenceAllele": "T",
          "start": 2787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266424.3:c.2538T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266481.1:p.Asn846Lys",
        "hgvsWellDefined": "XP_005266481.1:p.Asn846Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065050"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2619,
          "referenceAllele": "T",
          "start": 2618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266427.2:c.2400T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266484.1:p.Asn800Lys",
        "hgvsWellDefined": "XP_005266484.1:p.Asn800Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065051"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2601,
          "referenceAllele": "T",
          "start": 2600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266428.1:c.2382T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266485.1:p.Asn794Lys",
        "hgvsWellDefined": "XP_005266485.1:p.Asn794Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065052"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2768,
          "referenceAllele": "T",
          "start": 2767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266430.3:c.2634T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266487.1:p.Asn878Lys",
        "hgvsWellDefined": "XP_005266487.1:p.Asn878Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065053"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2613,
          "referenceAllele": "T",
          "start": 2612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266431.2:c.2598T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266488.1:p.Asn866Lys",
        "hgvsWellDefined": "XP_005266488.1:p.Asn866Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065054"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2367,
          "referenceAllele": "T",
          "start": 2366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266432.2:c.2148T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266489.1:p.Asn716Lys",
        "hgvsWellDefined": "XP_005266489.1:p.Asn716Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065055"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2628,
          "referenceAllele": "T",
          "start": 2627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719837.2:c.2538T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719900.1:p.Asn846Lys",
        "hgvsWellDefined": "XP_006719900.1:p.Asn846Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073355"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 586,
          "referenceAllele": "T",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719838.1:c.450T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719901.1:p.Asn150Lys",
        "hgvsWellDefined": "XP_006719901.1:p.Asn150Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073356"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 586,
          "referenceAllele": "T",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719839.1:c.450T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719902.1:p.Asn150Lys",
        "hgvsWellDefined": "XP_006719902.1:p.Asn150Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073357"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2640,
          "referenceAllele": "T",
          "start": 2639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535117.1:c.2538T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533419.1:p.Asn846Lys",
        "hgvsWellDefined": "XP_011533419.1:p.Asn846Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102126"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2853,
          "referenceAllele": "T",
          "start": 2852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535118.1:c.2634T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533420.1:p.Asn878Lys",
        "hgvsWellDefined": "XP_011533420.1:p.Asn878Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102127"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2853,
          "referenceAllele": "T",
          "start": 2852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535119.1:c.2634T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533421.1:p.Asn878Lys",
        "hgvsWellDefined": "XP_011533421.1:p.Asn878Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102128"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2439,
          "referenceAllele": "T",
          "start": 2438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535120.1:c.2220T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533422.1:p.Asn740Lys",
        "hgvsWellDefined": "XP_011533422.1:p.Asn740Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102129"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2853,
          "referenceAllele": "T",
          "start": 2852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535121.1:c.2634T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533423.1:p.Asn878Lys",
        "hgvsWellDefined": "XP_011533423.1:p.Asn878Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102130"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1415,
          "referenceAllele": "T",
          "start": 1414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535122.1:c.1302T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533424.1:p.Asn434Lys",
        "hgvsWellDefined": "XP_011533424.1:p.Asn434Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102131"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2853,
          "referenceAllele": "T",
          "start": 2852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941601.1:n.2853T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136194"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2853,
          "referenceAllele": "T",
          "start": 2852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941602.1:n.2853T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136195"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2853,
          "referenceAllele": "T",
          "start": 2852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941603.1:n.2853T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136196"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2853,
          "referenceAllele": "T",
          "start": 2852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941604.1:n.2853T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136197"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827326060",
      "coordinates": [
        {
          "allele": "G",
          "end": 2557,
          "referenceAllele": "T",
          "start": 2556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.1:c.2400T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:p.Asn800Lys",
        "hgvsWellDefined": "NP_001317507.1:p.Asn800Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516930"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827329242",
      "coordinates": [
        {
          "allele": "G",
          "end": 2539,
          "referenceAllele": "T",
          "start": 2538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330579.1:c.2382T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317508.1:p.Asn794Lys",
        "hgvsWellDefined": "NP_001317508.1:p.Asn794Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516931"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3317,
          "referenceAllele": "T",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266424.4:c.2538T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266481.1:p.Asn846Lys",
        "hgvsWellDefined": "XP_005266481.1:p.Asn846Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536236"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2799,
          "referenceAllele": "T",
          "start": 2798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266430.4:c.2634T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266487.1:p.Asn878Lys",
        "hgvsWellDefined": "XP_005266487.1:p.Asn878Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536237"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5683,
          "referenceAllele": "T",
          "start": 5682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266431.4:c.2598T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266488.1:p.Asn866Lys",
        "hgvsWellDefined": "XP_005266488.1:p.Asn866Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536238"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2945,
          "referenceAllele": "T",
          "start": 2944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719837.3:c.2538T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719900.1:p.Asn846Lys",
        "hgvsWellDefined": "XP_006719900.1:p.Asn846Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539964"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3880,
          "referenceAllele": "T",
          "start": 3879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535117.3:c.2538T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533419.1:p.Asn846Lys",
        "hgvsWellDefined": "XP_011533419.1:p.Asn846Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551907"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2695,
          "referenceAllele": "T",
          "start": 2694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_017020627.1:c.2538T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876116.1:p.Asn846Lys",
        "hgvsWellDefined": "XP_016876116.1:p.Asn846Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825038505",
      "coordinates": [
        {
          "allele": "G",
          "end": 2747,
          "referenceAllele": "T",
          "start": 2746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_000053.4:c.2634T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000044.2:p.Asn878Lys",
        "hgvsWellDefined": "NP_000044.2:p.Asn878Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674679",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242839.10:c.2634T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000053.4:c.2634T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242839.5:p.Asn878Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000044.2:p.Asn878Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825279683",
      "coordinates": [
        {
          "allele": "G",
          "end": 2261,
          "referenceAllele": "T",
          "start": 2260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001005918.3:c.2148T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005918.1:p.Asn716Lys",
        "hgvsWellDefined": "NP_001005918.1:p.Asn716Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675222"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827329242",
      "coordinates": [
        {
          "allele": "G",
          "end": 2495,
          "referenceAllele": "T",
          "start": 2494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330579.2:c.2382T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317508.1:p.Asn794Lys",
        "hgvsWellDefined": "NP_001317508.1:p.Asn794Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826317904",
      "coordinates": [
        {
          "allele": "G",
          "end": 2414,
          "referenceAllele": "T",
          "start": 2413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001243182.2:c.2301T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230111.1:p.Asn767Lys",
        "hgvsWellDefined": "NP_001230111.1:p.Asn767Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714450"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827326060",
      "coordinates": [
        {
          "allele": "G",
          "end": 2513,
          "referenceAllele": "T",
          "start": 2512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.2:c.2400T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:p.Asn800Lys",
        "hgvsWellDefined": "NP_001317507.1:p.Asn800Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718719"
    }
  ],
  "type": "nucleotide"
}