{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA388024828",
  "communityStandardTitle": [
    "NM_000053.4(ATP7B):c.3562C>T (p.Leu1188Phe)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2835643[alleleid]",
        "alleleId": 2835643,
        "preferredName": "NM_000053.4(ATP7B):c.3562C>T (p.Leu1188Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2679797",
        "RCV": [
          "RCV003464935"
        ],
        "variationId": 2679797
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.52513324G>A?assembly=hg19",
        "id": "chr13:g.52513324G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.51939188G>A?assembly=hg38",
        "id": "chr13:g.51939188G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1432190775",
        "rs": 1432190775
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-52513324-G-A?dataset=gnomad_r2_1",
        "id": "13-52513324-G-A",
        "variant": "13:52513324 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 51939188,
          "referenceAllele": "G",
          "start": 51939187
        }
      ],
      "hgvs": [
        "NC_000013.11:g.51939188G>A",
        "CM000675.2:g.51939188G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 52513324,
          "referenceAllele": "G",
          "start": 52513323
        }
      ],
      "hgvs": [
        "NC_000013.10:g.52513324G>A",
        "CM000675.1:g.52513324G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 51411325,
          "referenceAllele": "G",
          "start": 51411324
        }
      ],
      "hgvs": [
        "NC_000013.9:g.51411325G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 77307,
          "referenceAllele": "C",
          "start": 77306
        }
      ],
      "hgvs": [
        "NG_008806.1:g.77307C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001225"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3317,
          "referenceAllele": "C",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634296.2:c.*1212C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489512.2:n.*1212C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914381"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4099,
          "referenceAllele": "C",
          "start": 4098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673864.2:c.*2306C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501045.2:n.*2306C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914449"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3054,
          "referenceAllele": "C",
          "start": 3053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674147.2:c.2941C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500964.2:p.Leu981Phe",
        "hgvsWellDefined": "ENSP00000500964.2:p.Leu981Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914453"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3675,
          "referenceAllele": "C",
          "start": 3674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000242839.10:c.3562C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242839.5:p.Leu1188Phe",
        "hgvsWellDefined": "ENSP00000242839.5:p.Leu1188Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741157",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242839.10:c.3562C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000053.4:c.3562C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242839.5:p.Leu1188Phe"
          },
          "RefSeq": {
            "hgvs": "NP_000044.2:p.Leu1188Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3098,
          "referenceAllele": "C",
          "start": 3097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000344297.9:c.2941C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342559.5:p.Leu981Phe",
        "hgvsWellDefined": "ENSP00000342559.5:p.Leu981Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3229,
          "referenceAllele": "C",
          "start": 3228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400366.6:c.3229C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383217.3:p.Leu1077Phe",
        "hgvsWellDefined": "ENSP00000383217.3:p.Leu1077Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753917"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3563,
          "referenceAllele": "C",
          "start": 3562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000448424.7:c.3310C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416738.3:p.Leu1104Phe",
        "hgvsWellDefined": "ENSP00000416738.3:p.Leu1104Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756171"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 803,
          "referenceAllele": "C",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673696.1:n.803C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773796"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3402,
          "referenceAllele": "C",
          "start": 3401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673772.1:c.3328C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501168.1:p.Leu1110Phe",
        "hgvsWellDefined": "ENSP00000501168.1:p.Leu1110Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773858"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3701,
          "referenceAllele": "C",
          "start": 3700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673867.1:n.3701C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773928"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 428,
          "referenceAllele": "C",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673923.1:n.428C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773978"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2497,
          "referenceAllele": "C",
          "start": 2496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674147.1:c.2497C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500964.1:p.Leu833Phe",
        "hgvsWellDefined": "ENSP00000500964.1:p.Leu833Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774163"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3719,
          "referenceAllele": "C",
          "start": 3718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000242839.8:c.3562C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242839.4:p.Leu1188Phe",
        "hgvsWellDefined": "ENSP00000242839.4:p.Leu1188Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249232"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2943,
          "referenceAllele": "C",
          "start": 2942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000344297.8:c.2941C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342559.5:p.Leu981Phe",
        "hgvsWellDefined": "ENSP00000342559.5:p.Leu981Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261940"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3386,
          "referenceAllele": "C",
          "start": 3385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400366.5:c.3229C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383217.3:p.Leu1077Phe",
        "hgvsWellDefined": "ENSP00000383217.3:p.Leu1077Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2346,
          "referenceAllele": "C",
          "start": 2345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400370.8:c.2272C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383221.3:p.Leu758Phe",
        "hgvsWellDefined": "ENSP00000383221.3:p.Leu758Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3441,
          "referenceAllele": "C",
          "start": 3440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000418097.7:c.3367C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393343.2:p.Leu1123Phe",
        "hgvsWellDefined": "ENSP00000393343.2:p.Leu1123Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3485,
          "referenceAllele": "C",
          "start": 3484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000448424.6:c.3328C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416738.2:p.Leu1110Phe",
        "hgvsWellDefined": "ENSP00000416738.2:p.Leu1110Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299723"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1340,
          "referenceAllele": "C",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634296.1:c.1340C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3420,
          "referenceAllele": "C",
          "start": 3419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634308.1:c.*663C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489234.1:n.*663C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407771"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4306,
          "referenceAllele": "C",
          "start": 4305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634620.1:n.4306C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407886"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2907,
          "referenceAllele": "C",
          "start": 2906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634810.1:n.2907C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407945"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3492,
          "referenceAllele": "C",
          "start": 3491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634844.1:c.3418C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489398.1:p.Leu1140Phe",
        "hgvsWellDefined": "ENSP00000489398.1:p.Leu1140Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407955"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825038830",
      "coordinates": [
        {
          "allele": "T",
          "end": 3719,
          "referenceAllele": "C",
          "start": 3718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_000053.3:c.3562C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000044.2:p.Leu1188Phe",
        "hgvsWellDefined": "NP_000044.2:p.Leu1188Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006118"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825280032",
      "coordinates": [
        {
          "allele": "T",
          "end": 3098,
          "referenceAllele": "C",
          "start": 3097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001005918.2:c.2941C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005918.1:p.Leu981Phe",
        "hgvsWellDefined": "NP_001005918.1:p.Leu981Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007800"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826318342",
      "coordinates": [
        {
          "allele": "T",
          "end": 3386,
          "referenceAllele": "C",
          "start": 3385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001243182.1:c.3229C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230111.1:p.Leu1077Phe",
        "hgvsWellDefined": "NP_001230111.1:p.Leu1077Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018435"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3624,
          "referenceAllele": "C",
          "start": 3623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266423.2:c.3466C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266480.1:p.Leu1156Phe",
        "hgvsWellDefined": "XP_005266480.1:p.Leu1156Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065049"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3716,
          "referenceAllele": "C",
          "start": 3715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266424.3:c.3466C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266481.1:p.Leu1156Phe",
        "hgvsWellDefined": "XP_005266481.1:p.Leu1156Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065050"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3547,
          "referenceAllele": "C",
          "start": 3546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266427.2:c.3328C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266484.1:p.Leu1110Phe",
        "hgvsWellDefined": "XP_005266484.1:p.Leu1110Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065051"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3529,
          "referenceAllele": "C",
          "start": 3528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266428.1:c.3310C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266485.1:p.Leu1104Phe",
        "hgvsWellDefined": "XP_005266485.1:p.Leu1104Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065052"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3696,
          "referenceAllele": "C",
          "start": 3695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266430.3:c.3562C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266487.1:p.Leu1188Phe",
        "hgvsWellDefined": "XP_005266487.1:p.Leu1188Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065053"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3541,
          "referenceAllele": "C",
          "start": 3540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266431.2:c.3526C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266488.1:p.Leu1176Phe",
        "hgvsWellDefined": "XP_005266488.1:p.Leu1176Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065054"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3295,
          "referenceAllele": "C",
          "start": 3294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266432.2:c.3076C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266489.1:p.Leu1026Phe",
        "hgvsWellDefined": "XP_005266489.1:p.Leu1026Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065055"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3556,
          "referenceAllele": "C",
          "start": 3555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719837.2:c.3466C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719900.1:p.Leu1156Phe",
        "hgvsWellDefined": "XP_006719900.1:p.Leu1156Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073355"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1514,
          "referenceAllele": "C",
          "start": 1513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719838.1:c.1378C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719901.1:p.Leu460Phe",
        "hgvsWellDefined": "XP_006719901.1:p.Leu460Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1331,
          "referenceAllele": "C",
          "start": 1330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719839.1:c.1195C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719902.1:p.Leu399Phe",
        "hgvsWellDefined": "XP_006719902.1:p.Leu399Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073357"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3568,
          "referenceAllele": "C",
          "start": 3567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535117.1:c.3466C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533419.1:p.Leu1156Phe",
        "hgvsWellDefined": "XP_011533419.1:p.Leu1156Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102126"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3646,
          "referenceAllele": "C",
          "start": 3645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535118.1:c.3427C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533420.1:p.Leu1143Phe",
        "hgvsWellDefined": "XP_011533420.1:p.Leu1143Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3598,
          "referenceAllele": "C",
          "start": 3597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535119.1:c.3379C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533421.1:p.Leu1127Phe",
        "hgvsWellDefined": "XP_011533421.1:p.Leu1127Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3367,
          "referenceAllele": "C",
          "start": 3366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535120.1:c.3148C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533422.1:p.Leu1050Phe",
        "hgvsWellDefined": "XP_011533422.1:p.Leu1050Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102129"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3268,
          "referenceAllele": "C",
          "start": 3267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535121.1:c.3049C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533423.1:p.Leu1017Phe",
        "hgvsWellDefined": "XP_011533423.1:p.Leu1017Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102130"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2343,
          "referenceAllele": "C",
          "start": 2342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535122.1:c.2230C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533424.1:p.Leu744Phe",
        "hgvsWellDefined": "XP_011533424.1:p.Leu744Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102131"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3781,
          "referenceAllele": "C",
          "start": 3780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941601.1:n.3781C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136194"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3781,
          "referenceAllele": "C",
          "start": 3780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941602.1:n.3781C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136195"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3781,
          "referenceAllele": "C",
          "start": 3780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941603.1:n.3781C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136196"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3781,
          "referenceAllele": "C",
          "start": 3780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941604.1:n.3781C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136197"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827326875",
      "coordinates": [
        {
          "allele": "T",
          "end": 3485,
          "referenceAllele": "C",
          "start": 3484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.1:c.3328C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:p.Leu1110Phe",
        "hgvsWellDefined": "NP_001317507.1:p.Leu1110Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516930"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827329974",
      "coordinates": [
        {
          "allele": "T",
          "end": 3467,
          "referenceAllele": "C",
          "start": 3466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330579.1:c.3310C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317508.1:p.Leu1104Phe",
        "hgvsWellDefined": "NP_001317508.1:p.Leu1104Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516931"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4245,
          "referenceAllele": "C",
          "start": 4244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266424.4:c.3466C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266481.1:p.Leu1156Phe",
        "hgvsWellDefined": "XP_005266481.1:p.Leu1156Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536236"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3727,
          "referenceAllele": "C",
          "start": 3726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266430.4:c.3562C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266487.1:p.Leu1188Phe",
        "hgvsWellDefined": "XP_005266487.1:p.Leu1188Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536237"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6611,
          "referenceAllele": "C",
          "start": 6610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266431.4:c.3526C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266488.1:p.Leu1176Phe",
        "hgvsWellDefined": "XP_005266488.1:p.Leu1176Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536238"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3873,
          "referenceAllele": "C",
          "start": 3872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719837.3:c.3466C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719900.1:p.Leu1156Phe",
        "hgvsWellDefined": "XP_006719900.1:p.Leu1156Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539964"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4808,
          "referenceAllele": "C",
          "start": 4807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535117.3:c.3466C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533419.1:p.Leu1156Phe",
        "hgvsWellDefined": "XP_011533419.1:p.Leu1156Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551907"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3623,
          "referenceAllele": "C",
          "start": 3622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_017020627.1:c.3466C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876116.1:p.Leu1156Phe",
        "hgvsWellDefined": "XP_016876116.1:p.Leu1156Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825038830",
      "coordinates": [
        {
          "allele": "T",
          "end": 3675,
          "referenceAllele": "C",
          "start": 3674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_000053.4:c.3562C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000044.2:p.Leu1188Phe",
        "hgvsWellDefined": "NP_000044.2:p.Leu1188Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674679",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242839.10:c.3562C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000053.4:c.3562C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242839.5:p.Leu1188Phe"
          },
          "RefSeq": {
            "hgvs": "NP_000044.2:p.Leu1188Phe"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825280032",
      "coordinates": [
        {
          "allele": "T",
          "end": 3054,
          "referenceAllele": "C",
          "start": 3053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001005918.3:c.2941C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005918.1:p.Leu981Phe",
        "hgvsWellDefined": "NP_001005918.1:p.Leu981Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675222"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827329974",
      "coordinates": [
        {
          "allele": "T",
          "end": 3423,
          "referenceAllele": "C",
          "start": 3422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330579.2:c.3310C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317508.1:p.Leu1104Phe",
        "hgvsWellDefined": "NP_001317508.1:p.Leu1104Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826318342",
      "coordinates": [
        {
          "allele": "T",
          "end": 3342,
          "referenceAllele": "C",
          "start": 3341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001243182.2:c.3229C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230111.1:p.Leu1077Phe",
        "hgvsWellDefined": "NP_001230111.1:p.Leu1077Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714450"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827326875",
      "coordinates": [
        {
          "allele": "T",
          "end": 3441,
          "referenceAllele": "C",
          "start": 3440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.2:c.3328C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:p.Leu1110Phe",
        "hgvsWellDefined": "NP_001317507.1:p.Leu1110Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718719"
    }
  ],
  "type": "nucleotide"
}