{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA274013",
  "communityStandardTitle": [
    "NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=186891[alleleid]",
        "alleleId": 186891,
        "preferredName": "NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/188831",
        "RCV": [
          "RCV000169179",
          "RCV000362786",
          "RCV002433726"
        ],
        "variationId": 188831
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/13-52520505-G-A",
        "id": "13-52520505-G-A",
        "variant": "13:52520505 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.52520505G>A?assembly=hg19",
        "id": "chr13:g.52520505G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.51946369G>A?assembly=hg38",
        "id": "chr13:g.51946369G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201038679",
        "rs": 201038679
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-52520505-G-A?dataset=gnomad_r2_1",
        "id": "13-52520505-G-A",
        "variant": "13:52520505 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-51946369-G-A?dataset=gnomad_r3",
        "id": "13-51946369-G-A",
        "variant": "13:51946369 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-51946369-G-A?dataset=gnomad_r4",
        "id": "13-51946369-G-A",
        "variant": "13:51946369 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 51946369,
          "referenceAllele": "G",
          "start": 51946368
        }
      ],
      "hgvs": [
        "NC_000013.11:g.51946369G>A",
        "CM000675.2:g.51946369G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 52520505,
          "referenceAllele": "G",
          "start": 52520504
        }
      ],
      "hgvs": [
        "NC_000013.10:g.52520505G>A",
        "CM000675.1:g.52520505G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 51418506,
          "referenceAllele": "G",
          "start": 51418505
        }
      ],
      "hgvs": [
        "NC_000013.9:g.51418506G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 70126,
          "referenceAllele": "C",
          "start": 70125
        }
      ],
      "hgvs": [
        "NG_008806.1:g.70126C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001225"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2913,
          "referenceAllele": "C",
          "start": 2912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634296.2:c.*808C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489512.2:n.*808C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914381"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3512,
          "referenceAllele": "C",
          "start": 3511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673864.2:c.*1719C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501045.2:n.*1719C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914449"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2467,
          "referenceAllele": "C",
          "start": 2466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674147.2:c.2354C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500964.2:p.Pro785Leu",
        "hgvsWellDefined": "ENSP00000500964.2:p.Pro785Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914453"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3088,
          "referenceAllele": "C",
          "start": 3087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000242839.10:c.2975C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242839.5:p.Pro992Leu",
        "hgvsWellDefined": "ENSP00000242839.5:p.Pro992Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741157",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242839.10:c.2975C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000053.4:c.2975C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242839.5:p.Pro992Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000044.2:p.Pro992Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2511,
          "referenceAllele": "C",
          "start": 2510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000344297.9:c.2354C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342559.5:p.Pro785Leu",
        "hgvsWellDefined": "ENSP00000342559.5:p.Pro785Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2642,
          "referenceAllele": "C",
          "start": 2641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400366.6:c.2642C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383217.3:p.Pro881Leu",
        "hgvsWellDefined": "ENSP00000383217.3:p.Pro881Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753917"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2976,
          "referenceAllele": "C",
          "start": 2975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000448424.7:c.2723C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416738.3:p.Pro908Leu",
        "hgvsWellDefined": "ENSP00000416738.3:p.Pro908Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756171"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2815,
          "referenceAllele": "C",
          "start": 2814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673772.1:c.2741C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501168.1:p.Pro914Leu",
        "hgvsWellDefined": "ENSP00000501168.1:p.Pro914Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773858"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1122,
          "referenceAllele": "C",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673867.1:n.1122C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773928"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3338,
          "referenceAllele": "C",
          "start": 3337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674126.1:n.3338C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774145"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1910,
          "referenceAllele": "C",
          "start": 1909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674147.1:c.1910C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500964.1:p.Pro637Leu",
        "hgvsWellDefined": "ENSP00000500964.1:p.Pro637Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774163"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3132,
          "referenceAllele": "C",
          "start": 3131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000242839.8:c.2975C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242839.4:p.Pro992Leu",
        "hgvsWellDefined": "ENSP00000242839.4:p.Pro992Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249232"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2356,
          "referenceAllele": "C",
          "start": 2355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000344297.8:c.2354C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342559.5:p.Pro785Leu",
        "hgvsWellDefined": "ENSP00000342559.5:p.Pro785Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261940"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2799,
          "referenceAllele": "C",
          "start": 2798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400366.5:c.2642C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383217.3:p.Pro881Leu",
        "hgvsWellDefined": "ENSP00000383217.3:p.Pro881Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1759,
          "referenceAllele": "C",
          "start": 1758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400370.8:c.1685C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383221.3:p.Pro562Leu",
        "hgvsWellDefined": "ENSP00000383221.3:p.Pro562Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2939,
          "endIntronDirection": "-",
          "endIntronOffset": 2077,
          "referenceAllele": "C",
          "start": 2939,
          "startIntronDirection": "-",
          "startIntronOffset": 2078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000418097.7:c.2866-2078C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393343.2:n.2866-2078C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2898,
          "referenceAllele": "C",
          "start": 2897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000448424.6:c.2741C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416738.2:p.Pro914Leu",
        "hgvsWellDefined": "ENSP00000416738.2:p.Pro914Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299723"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 195,
          "referenceAllele": "C",
          "start": 194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000466629.1:n.195C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309954"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 936,
          "referenceAllele": "C",
          "start": 935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634296.1:c.936C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2833,
          "referenceAllele": "C",
          "start": 2832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634308.1:c.*76C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489234.1:n.*76C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407771"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3719,
          "referenceAllele": "C",
          "start": 3718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634620.1:n.3719C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407886"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2320,
          "referenceAllele": "C",
          "start": 2319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634810.1:n.2320C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407945"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2905,
          "referenceAllele": "C",
          "start": 2904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634844.1:c.2831C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489398.1:p.Pro944Leu",
        "hgvsWellDefined": "ENSP00000489398.1:p.Pro944Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407955"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 321,
          "referenceAllele": "C",
          "start": 320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000635406.1:n.321C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408123"
    },
    {
      "@id": "http://reg.genome.network/allele/PA091963",
      "coordinates": [
        {
          "allele": "T",
          "end": 3132,
          "referenceAllele": "C",
          "start": 3131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_000053.3:c.2975C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000044.2:p.Pro992Leu",
        "hgvsWellDefined": "NP_000044.2:p.Pro992Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006118"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825279775",
      "coordinates": [
        {
          "allele": "T",
          "end": 2511,
          "referenceAllele": "C",
          "start": 2510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001005918.2:c.2354C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005918.1:p.Pro785Leu",
        "hgvsWellDefined": "NP_001005918.1:p.Pro785Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007800"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826318061",
      "coordinates": [
        {
          "allele": "T",
          "end": 2799,
          "referenceAllele": "C",
          "start": 2798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001243182.1:c.2642C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230111.1:p.Pro881Leu",
        "hgvsWellDefined": "NP_001230111.1:p.Pro881Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018435"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3037,
          "referenceAllele": "C",
          "start": 3036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266423.2:c.2879C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266480.1:p.Pro960Leu",
        "hgvsWellDefined": "XP_005266480.1:p.Pro960Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065049"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3129,
          "referenceAllele": "C",
          "start": 3128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266424.3:c.2879C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266481.1:p.Pro960Leu",
        "hgvsWellDefined": "XP_005266481.1:p.Pro960Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065050"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2960,
          "referenceAllele": "C",
          "start": 2959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266427.2:c.2741C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266484.1:p.Pro914Leu",
        "hgvsWellDefined": "XP_005266484.1:p.Pro914Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065051"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2942,
          "referenceAllele": "C",
          "start": 2941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266428.1:c.2723C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266485.1:p.Pro908Leu",
        "hgvsWellDefined": "XP_005266485.1:p.Pro908Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065052"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3109,
          "referenceAllele": "C",
          "start": 3108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266430.3:c.2975C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266487.1:p.Pro992Leu",
        "hgvsWellDefined": "XP_005266487.1:p.Pro992Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065053"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2954,
          "referenceAllele": "C",
          "start": 2953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266431.2:c.2939C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266488.1:p.Pro980Leu",
        "hgvsWellDefined": "XP_005266488.1:p.Pro980Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065054"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2708,
          "referenceAllele": "C",
          "start": 2707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266432.2:c.2489C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266489.1:p.Pro830Leu",
        "hgvsWellDefined": "XP_005266489.1:p.Pro830Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065055"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2969,
          "referenceAllele": "C",
          "start": 2968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719837.2:c.2879C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719900.1:p.Pro960Leu",
        "hgvsWellDefined": "XP_006719900.1:p.Pro960Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073355"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 927,
          "referenceAllele": "C",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719838.1:c.791C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719901.1:p.Pro264Leu",
        "hgvsWellDefined": "XP_006719901.1:p.Pro264Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 927,
          "referenceAllele": "C",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719839.1:c.791C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719902.1:p.Pro264Leu",
        "hgvsWellDefined": "XP_006719902.1:p.Pro264Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073357"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2981,
          "referenceAllele": "C",
          "start": 2980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535117.1:c.2879C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533419.1:p.Pro960Leu",
        "hgvsWellDefined": "XP_011533419.1:p.Pro960Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102126"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3059,
          "referenceAllele": "C",
          "start": 3058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535118.1:c.2840C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533420.1:p.Pro947Leu",
        "hgvsWellDefined": "XP_011533420.1:p.Pro947Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3194,
          "referenceAllele": "C",
          "start": 3193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535119.1:c.2975C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533421.1:p.Pro992Leu",
        "hgvsWellDefined": "XP_011533421.1:p.Pro992Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2780,
          "referenceAllele": "C",
          "start": 2779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535120.1:c.2561C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533422.1:p.Pro854Leu",
        "hgvsWellDefined": "XP_011533422.1:p.Pro854Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102129"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2949,
          "endIntronDirection": "+",
          "endIntronOffset": 3638,
          "referenceAllele": "C",
          "start": 2949,
          "startIntronDirection": "+",
          "startIntronOffset": 3637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535121.1:c.2730+3638C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533423.1:n.2730+3638C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102130"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1756,
          "referenceAllele": "C",
          "start": 1755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535122.1:c.1643C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533424.1:p.Pro548Leu",
        "hgvsWellDefined": "XP_011533424.1:p.Pro548Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102131"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3194,
          "referenceAllele": "C",
          "start": 3193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941601.1:n.3194C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136194"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3194,
          "referenceAllele": "C",
          "start": 3193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941602.1:n.3194C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136195"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3194,
          "referenceAllele": "C",
          "start": 3193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941603.1:n.3194C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136196"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3194,
          "referenceAllele": "C",
          "start": 3193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941604.1:n.3194C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136197"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827326350",
      "coordinates": [
        {
          "allele": "T",
          "end": 2898,
          "referenceAllele": "C",
          "start": 2897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.1:c.2741C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:p.Pro914Leu",
        "hgvsWellDefined": "NP_001317507.1:p.Pro914Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516930"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827329554",
      "coordinates": [
        {
          "allele": "T",
          "end": 2880,
          "referenceAllele": "C",
          "start": 2879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330579.1:c.2723C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317508.1:p.Pro908Leu",
        "hgvsWellDefined": "NP_001317508.1:p.Pro908Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516931"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3658,
          "referenceAllele": "C",
          "start": 3657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266424.4:c.2879C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266481.1:p.Pro960Leu",
        "hgvsWellDefined": "XP_005266481.1:p.Pro960Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536236"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3140,
          "referenceAllele": "C",
          "start": 3139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266430.4:c.2975C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266487.1:p.Pro992Leu",
        "hgvsWellDefined": "XP_005266487.1:p.Pro992Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536237"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6024,
          "referenceAllele": "C",
          "start": 6023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266431.4:c.2939C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266488.1:p.Pro980Leu",
        "hgvsWellDefined": "XP_005266488.1:p.Pro980Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536238"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3286,
          "referenceAllele": "C",
          "start": 3285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719837.3:c.2879C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719900.1:p.Pro960Leu",
        "hgvsWellDefined": "XP_006719900.1:p.Pro960Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539964"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4221,
          "referenceAllele": "C",
          "start": 4220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535117.3:c.2879C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533419.1:p.Pro960Leu",
        "hgvsWellDefined": "XP_011533419.1:p.Pro960Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551907"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3036,
          "referenceAllele": "C",
          "start": 3035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_017020627.1:c.2879C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876116.1:p.Pro960Leu",
        "hgvsWellDefined": "XP_016876116.1:p.Pro960Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA091963",
      "coordinates": [
        {
          "allele": "T",
          "end": 3088,
          "referenceAllele": "C",
          "start": 3087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_000053.4:c.2975C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000044.2:p.Pro992Leu",
        "hgvsWellDefined": "NP_000044.2:p.Pro992Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674679",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242839.10:c.2975C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000053.4:c.2975C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242839.5:p.Pro992Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000044.2:p.Pro992Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825279775",
      "coordinates": [
        {
          "allele": "T",
          "end": 2467,
          "referenceAllele": "C",
          "start": 2466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001005918.3:c.2354C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005918.1:p.Pro785Leu",
        "hgvsWellDefined": "NP_001005918.1:p.Pro785Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675222"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827329554",
      "coordinates": [
        {
          "allele": "T",
          "end": 2836,
          "referenceAllele": "C",
          "start": 2835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330579.2:c.2723C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317508.1:p.Pro908Leu",
        "hgvsWellDefined": "NP_001317508.1:p.Pro908Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826318061",
      "coordinates": [
        {
          "allele": "T",
          "end": 2755,
          "referenceAllele": "C",
          "start": 2754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001243182.2:c.2642C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230111.1:p.Pro881Leu",
        "hgvsWellDefined": "NP_001230111.1:p.Pro881Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714450"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827326350",
      "coordinates": [
        {
          "allele": "T",
          "end": 2854,
          "referenceAllele": "C",
          "start": 2853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.2:c.2741C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:p.Pro914Leu",
        "hgvsWellDefined": "NP_001317507.1:p.Pro914Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718719"
    }
  ],
  "type": "nucleotide"
}