{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA271166",
  "communityStandardTitle": [
    "NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM4755277"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=167775[alleleid]",
        "alleleId": 167775,
        "preferredName": "NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/157928",
        "RCV": [
          "RCV000145251",
          "RCV000416017",
          "RCV002514798"
        ],
        "variationId": 157928
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/13-52549234-T-C",
        "id": "13-52549234-T-C",
        "variant": "13:52549234 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.52549234T>C?assembly=hg19",
        "id": "chr13:g.52549234T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.51975098T>C?assembly=hg38",
        "id": "chr13:g.51975098T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201738967",
        "rs": 201738967
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-52549234-T-C?dataset=gnomad_r2_1",
        "id": "13-52549234-T-C",
        "variant": "13:52549234 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-51975098-T-C?dataset=gnomad_r3",
        "id": "13-51975098-T-C",
        "variant": "13:51975098 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-51975098-T-C?dataset=gnomad_r4",
        "id": "13-51975098-T-C",
        "variant": "13:51975098 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 51975098,
          "referenceAllele": "T",
          "start": 51975097
        }
      ],
      "hgvs": [
        "NC_000013.11:g.51975098T>C",
        "CM000675.2:g.51975098T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 52549234,
          "referenceAllele": "T",
          "start": 52549233
        }
      ],
      "hgvs": [
        "NC_000013.10:g.52549234T>C",
        "CM000675.1:g.52549234T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 51447235,
          "referenceAllele": "T",
          "start": 51447234
        }
      ],
      "hgvs": [
        "NC_000013.9:g.51447235T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 41397,
          "referenceAllele": "A",
          "start": 41396
        }
      ],
      "hgvs": [
        "NG_008806.1:g.41397A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001225"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 235,
          "referenceAllele": "A",
          "start": 234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634296.2:c.122A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489512.2:p.Asn41Ser",
        "hgvsWellDefined": "ENSP00000489512.2:p.Asn41Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914381"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 421,
          "referenceAllele": "A",
          "start": 420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673864.2:c.122A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501045.2:p.Asn41Ser",
        "hgvsWellDefined": "ENSP00000501045.2:p.Asn41Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914449"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 235,
          "referenceAllele": "A",
          "start": 234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674147.2:c.122A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500964.2:p.Asn41Ser",
        "hgvsWellDefined": "ENSP00000500964.2:p.Asn41Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914453"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 235,
          "referenceAllele": "A",
          "start": 234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000242839.10:c.122A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242839.5:p.Asn41Ser",
        "hgvsWellDefined": "ENSP00000242839.5:p.Asn41Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741157",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242839.10:c.122A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000053.4:c.122A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242839.5:p.Asn41Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000044.2:p.Asn41Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 279,
          "referenceAllele": "A",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000344297.9:c.122A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342559.5:p.Asn41Ser",
        "hgvsWellDefined": "ENSP00000342559.5:p.Asn41Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748204"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 122,
          "referenceAllele": "A",
          "start": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400366.6:c.122A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383217.3:p.Asn41Ser",
        "hgvsWellDefined": "ENSP00000383217.3:p.Asn41Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753917"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 375,
          "referenceAllele": "A",
          "start": 374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000448424.7:c.122A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416738.3:p.Asn41Ser",
        "hgvsWellDefined": "ENSP00000416738.3:p.Asn41Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756171"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 196,
          "referenceAllele": "A",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673772.1:c.122A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501168.1:p.Asn41Ser",
        "hgvsWellDefined": "ENSP00000501168.1:p.Asn41Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773858"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 452,
          "referenceAllele": "A",
          "start": 451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673844.1:n.452A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773912"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 227,
          "referenceAllele": "A",
          "start": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674078.1:n.227A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774101"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 279,
          "referenceAllele": "A",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000242839.8:c.122A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242839.4:p.Asn41Ser",
        "hgvsWellDefined": "ENSP00000242839.4:p.Asn41Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249232"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 124,
          "referenceAllele": "A",
          "start": 123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000344297.8:c.122A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342559.5:p.Asn41Ser",
        "hgvsWellDefined": "ENSP00000342559.5:p.Asn41Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261940"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 279,
          "referenceAllele": "A",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400366.5:c.122A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383217.3:p.Asn41Ser",
        "hgvsWellDefined": "ENSP00000383217.3:p.Asn41Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 196,
          "referenceAllele": "A",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400370.8:c.122A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383221.3:p.Asn41Ser",
        "hgvsWellDefined": "ENSP00000383221.3:p.Asn41Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 196,
          "referenceAllele": "A",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000418097.7:c.122A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393343.2:p.Asn41Ser",
        "hgvsWellDefined": "ENSP00000393343.2:p.Asn41Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285231"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 279,
          "referenceAllele": "A",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000448424.6:c.122A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416738.2:p.Asn41Ser",
        "hgvsWellDefined": "ENSP00000416738.2:p.Asn41Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299723"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 243,
          "referenceAllele": "A",
          "start": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000482841.6:n.243A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322439"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 194,
          "referenceAllele": "A",
          "start": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634308.1:c.122A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489234.1:p.Asn41Ser",
        "hgvsWellDefined": "ENSP00000489234.1:p.Asn41Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407771"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 196,
          "referenceAllele": "A",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634844.1:c.122A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489398.1:p.Asn41Ser",
        "hgvsWellDefined": "ENSP00000489398.1:p.Asn41Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407955"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 211,
          "endIntronDirection": "-",
          "endIntronOffset": 28619,
          "referenceAllele": "A",
          "start": 211,
          "startIntronDirection": "-",
          "startIntronOffset": 28620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000635406.1:n.212-28620A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408123"
    },
    {
      "@id": "http://reg.genome.network/allele/PA091843",
      "coordinates": [
        {
          "allele": "G",
          "end": 279,
          "referenceAllele": "A",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_000053.3:c.122A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000044.2:p.Asn41Ser",
        "hgvsWellDefined": "NP_000044.2:p.Asn41Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006118"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913199099",
      "coordinates": [
        {
          "allele": "G",
          "end": 279,
          "referenceAllele": "A",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001005918.2:c.122A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005918.1:p.Asn41Ser",
        "hgvsWellDefined": "NP_001005918.1:p.Asn41Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007800"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826317057",
      "coordinates": [
        {
          "allele": "G",
          "end": 279,
          "referenceAllele": "A",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001243182.1:c.122A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230111.1:p.Asn41Ser",
        "hgvsWellDefined": "NP_001230111.1:p.Asn41Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018435"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 184,
          "referenceAllele": "A",
          "start": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266423.2:c.26A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266480.1:p.Asn9Ser",
        "hgvsWellDefined": "XP_005266480.1:p.Asn9Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065049"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 276,
          "referenceAllele": "A",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266424.3:c.26A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266481.1:p.Asn9Ser",
        "hgvsWellDefined": "XP_005266481.1:p.Asn9Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065050"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 341,
          "referenceAllele": "A",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266427.2:c.122A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266484.1:p.Asn41Ser",
        "hgvsWellDefined": "XP_005266484.1:p.Asn41Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065051"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 341,
          "referenceAllele": "A",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266428.1:c.122A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266485.1:p.Asn41Ser",
        "hgvsWellDefined": "XP_005266485.1:p.Asn41Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065052"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 256,
          "referenceAllele": "A",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266430.3:c.122A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266487.1:p.Asn41Ser",
        "hgvsWellDefined": "XP_005266487.1:p.Asn41Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065053"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 101,
          "referenceAllele": "A",
          "start": 100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266431.2:c.86A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266488.1:p.Asn29Ser",
        "hgvsWellDefined": "XP_005266488.1:p.Asn29Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065054"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 341,
          "referenceAllele": "A",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266432.2:c.122A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266489.1:p.Asn41Ser",
        "hgvsWellDefined": "XP_005266489.1:p.Asn41Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065055"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 116,
          "referenceAllele": "A",
          "start": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719837.2:c.26A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719900.1:p.Asn9Ser",
        "hgvsWellDefined": "XP_006719900.1:p.Asn9Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073355"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 128,
          "referenceAllele": "A",
          "start": 127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535117.1:c.26A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533419.1:p.Asn9Ser",
        "hgvsWellDefined": "XP_011533419.1:p.Asn9Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102126"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 341,
          "referenceAllele": "A",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535118.1:c.122A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533420.1:p.Asn41Ser",
        "hgvsWellDefined": "XP_011533420.1:p.Asn41Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102127"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 341,
          "referenceAllele": "A",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535119.1:c.122A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533421.1:p.Asn41Ser",
        "hgvsWellDefined": "XP_011533421.1:p.Asn41Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102128"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 341,
          "referenceAllele": "A",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535120.1:c.122A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533422.1:p.Asn41Ser",
        "hgvsWellDefined": "XP_011533422.1:p.Asn41Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102129"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 341,
          "referenceAllele": "A",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535121.1:c.122A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533423.1:p.Asn41Ser",
        "hgvsWellDefined": "XP_011533423.1:p.Asn41Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102130"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 341,
          "referenceAllele": "A",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941601.1:n.341A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136194"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 341,
          "referenceAllele": "A",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941602.1:n.341A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136195"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 341,
          "referenceAllele": "A",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941603.1:n.341A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136196"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 341,
          "referenceAllele": "A",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941604.1:n.341A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136197"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827324609",
      "coordinates": [
        {
          "allele": "G",
          "end": 279,
          "referenceAllele": "A",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.1:c.122A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:p.Asn41Ser",
        "hgvsWellDefined": "NP_001317507.1:p.Asn41Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516930"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916028320",
      "coordinates": [
        {
          "allele": "G",
          "end": 279,
          "referenceAllele": "A",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330579.1:c.122A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317508.1:p.Asn41Ser",
        "hgvsWellDefined": "NP_001317508.1:p.Asn41Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516931"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 805,
          "referenceAllele": "A",
          "start": 804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266424.4:c.26A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266481.1:p.Asn9Ser",
        "hgvsWellDefined": "XP_005266481.1:p.Asn9Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536236"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 287,
          "referenceAllele": "A",
          "start": 286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266430.4:c.122A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266487.1:p.Asn41Ser",
        "hgvsWellDefined": "XP_005266487.1:p.Asn41Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536237"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3171,
          "referenceAllele": "A",
          "start": 3170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266431.4:c.86A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266488.1:p.Asn29Ser",
        "hgvsWellDefined": "XP_005266488.1:p.Asn29Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536238"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 433,
          "referenceAllele": "A",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719837.3:c.26A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719900.1:p.Asn9Ser",
        "hgvsWellDefined": "XP_006719900.1:p.Asn9Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539964"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1368,
          "referenceAllele": "A",
          "start": 1367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535117.3:c.26A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533419.1:p.Asn9Ser",
        "hgvsWellDefined": "XP_011533419.1:p.Asn9Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551907"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 183,
          "referenceAllele": "A",
          "start": 182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_017020627.1:c.26A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876116.1:p.Asn9Ser",
        "hgvsWellDefined": "XP_016876116.1:p.Asn9Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA091843",
      "coordinates": [
        {
          "allele": "G",
          "end": 235,
          "referenceAllele": "A",
          "start": 234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_000053.4:c.122A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000044.2:p.Asn41Ser",
        "hgvsWellDefined": "NP_000044.2:p.Asn41Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674679",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242839.10:c.122A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000053.4:c.122A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242839.5:p.Asn41Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000044.2:p.Asn41Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA913199099",
      "coordinates": [
        {
          "allele": "G",
          "end": 235,
          "referenceAllele": "A",
          "start": 234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001005918.3:c.122A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005918.1:p.Asn41Ser",
        "hgvsWellDefined": "NP_001005918.1:p.Asn41Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675222"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916028320",
      "coordinates": [
        {
          "allele": "G",
          "end": 235,
          "referenceAllele": "A",
          "start": 234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330579.2:c.122A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317508.1:p.Asn41Ser",
        "hgvsWellDefined": "NP_001317508.1:p.Asn41Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826317057",
      "coordinates": [
        {
          "allele": "G",
          "end": 235,
          "referenceAllele": "A",
          "start": 234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001243182.2:c.122A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230111.1:p.Asn41Ser",
        "hgvsWellDefined": "NP_001230111.1:p.Asn41Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714450"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827324609",
      "coordinates": [
        {
          "allele": "G",
          "end": 235,
          "referenceAllele": "A",
          "start": 234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.2:c.122A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:p.Asn41Ser",
        "hgvsWellDefined": "NP_001317507.1:p.Asn41Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718719"
    }
  ],
  "type": "nucleotide"
}