{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1401877077",
  "communityStandardTitle": [
    "NM_001378687.1(ATP2C1):c.1402C= (p.Arg468=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137853013",
        "rs": 137853013
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 130969385,
          "referenceAllele": "C",
          "start": 130969384
        }
      ],
      "hgvs": [
        "NC_000003.12:g.130969385C=",
        "CM000665.2:g.130969385C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 130688229,
          "referenceAllele": "C",
          "start": 130688228
        }
      ],
      "hgvs": [
        "NC_000003.11:g.130688229C=",
        "CM000665.1:g.130688229C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 132170919,
          "referenceAllele": "C",
          "start": 132170918
        }
      ],
      "hgvs": [
        "NC_000003.10:g.132170919C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 79796,
          "referenceAllele": "C",
          "start": 79795
        }
      ],
      "hgvs": [
        "NG_007379.1:g.79796C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000554"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 123861,
          "referenceAllele": "C",
          "start": 123860
        }
      ],
      "hgvs": [
        "NG_007379.2:g.123861C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616074"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1836,
          "referenceAllele": "C",
          "start": 1835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "ENST00000510168.6:c.1402C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427461.1:p.Arg468="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758205",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000510168.6:c.1402C="
          },
          "RefSeq": {
            "hgvs": "NM_001378687.1:c.1402C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000427461.1:p.Arg468="
          },
          "RefSeq": {
            "hgvs": "NP_001365616.1:p.Arg468="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1724,
          "referenceAllele": "C",
          "start": 1723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "ENST00000328560.12:c.1402C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329664.8:p.Arg468="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258934"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1531,
          "referenceAllele": "C",
          "start": 1530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "ENST00000359644.7:c.1402C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352665.3:p.Arg468="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264856"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1531,
          "referenceAllele": "C",
          "start": 1530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "ENST00000422190.6:c.1402C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402677.2:p.Arg468="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287155"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1637,
          "referenceAllele": "C",
          "start": 1636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "ENST00000428331.6:c.1402C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395809.2:p.Arg468="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290146"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1613,
          "referenceAllele": "C",
          "start": 1612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "ENST00000504381.5:c.1387C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425320.2:p.Arg463="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336456"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 463,
          "referenceAllele": "C",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "ENST00000504571.5:c.463C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422489.1:p.Arg155="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336595"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1263,
          "referenceAllele": "C",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "ENST00000504612.5:c.1263C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS336624"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1556,
          "referenceAllele": "C",
          "start": 1555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "ENST00000504948.5:c.1354C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423330.1:p.Arg452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336864"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1730,
          "referenceAllele": "C",
          "start": 1729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "ENST00000505330.5:c.1504C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423774.2:p.Arg502="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS337151"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1724,
          "referenceAllele": "C",
          "start": 1723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "ENST00000507488.6:c.1504C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421326.3:p.Arg502="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS338762"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1811,
          "referenceAllele": "C",
          "start": 1810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "ENST00000508532.5:c.1402C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424783.1:p.Arg468="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339532"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 126,
          "referenceAllele": "C",
          "start": 125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "ENST00000508660.5:c.126C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS339633"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1952,
          "referenceAllele": "C",
          "start": 1951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "ENST00000510168.5:c.1402C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427461.1:p.Arg468="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340754"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1556,
          "referenceAllele": "C",
          "start": 1555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "ENST00000513801.5:c.1354C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422872.1:p.Arg452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343450"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1572,
          "referenceAllele": "C",
          "start": 1571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "ENST00000514654.5:n.1572C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344088"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1905,
          "referenceAllele": "C",
          "start": 1904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "ENST00000533801.6:c.1402C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432956.3:p.Arg468="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358517"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1905,
          "referenceAllele": "C",
          "start": 1904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "NM_001001485.2:c.1402C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001001485.1:p.Arg468="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007066"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1582,
          "referenceAllele": "C",
          "start": 1581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "NM_001001486.1:c.1402C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001001486.1:p.Arg468="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007067"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1582,
          "referenceAllele": "C",
          "start": 1581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "NM_001001487.1:c.1402C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001001487.1:p.Arg468="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007068"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1811,
          "referenceAllele": "C",
          "start": 1810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "NM_001199179.1:c.1402C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001186108.1:p.Arg468="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1800,
          "referenceAllele": "C",
          "start": 1799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "NM_001199180.1:c.1504C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001186109.1:p.Arg502="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017018"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1800,
          "referenceAllele": "C",
          "start": 1799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "NM_001199181.1:c.1504C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001186110.1:p.Arg502="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1683,
          "referenceAllele": "C",
          "start": 1682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "NM_001199182.1:c.1387C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001186111.1:p.Arg463="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017020"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1673,
          "referenceAllele": "C",
          "start": 1672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "NM_001199183.1:c.1354C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001186112.1:p.Arg452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017021"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1673,
          "referenceAllele": "C",
          "start": 1672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "NM_001199184.1:c.1354C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001186113.1:p.Arg452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1724,
          "referenceAllele": "C",
          "start": 1723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "NM_001199185.1:c.1402C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001186114.1:p.Arg468="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017023"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068390513",
      "coordinates": [
        {
          "allele": "C",
          "end": 1724,
          "referenceAllele": "C",
          "start": 1723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "NM_014382.3:c.1402C="
      ],
      "proteinEffect": {
        "hgvs": "NP_055197.2:p.Arg468="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033133"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1842,
          "referenceAllele": "C",
          "start": 1841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "XM_005247354.1:c.1504C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005247411.1:p.Arg502="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058010"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1940,
          "referenceAllele": "C",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "XM_005247355.1:c.1402C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005247412.1:p.Arg468="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1705,
          "referenceAllele": "C",
          "start": 1704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "XM_005247356.1:c.1402C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005247413.1:p.Arg468="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1940,
          "referenceAllele": "C",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "XM_005247357.1:c.1402C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005247414.1:p.Arg468="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058013"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1529,
          "referenceAllele": "C",
          "start": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "XM_005247358.1:c.1354C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005247415.1:p.Arg452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058014"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1607,
          "referenceAllele": "C",
          "start": 1606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "XM_006713585.1:c.1402C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006713648.1:p.Arg468="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070248"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1842,
          "referenceAllele": "C",
          "start": 1841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "XM_011512685.1:c.1504C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011510987.1:p.Arg502="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079941"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 663,
          "referenceAllele": "C",
          "start": 662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "XM_011512686.1:c.568C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011510988.1:p.Arg190="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079942"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1842,
          "referenceAllele": "C",
          "start": 1841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "XM_011512687.1:c.1504C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011510989.1:p.Arg502="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079943"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1825,
          "referenceAllele": "C",
          "start": 1824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "XM_005247354.2:c.1504C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005247411.1:p.Arg502="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532810"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1952,
          "referenceAllele": "C",
          "start": 1951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "XM_005247355.2:c.1402C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005247412.1:p.Arg468="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532811"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1705,
          "referenceAllele": "C",
          "start": 1704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "XM_005247356.3:c.1402C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005247413.1:p.Arg468="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532812"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1535,
          "referenceAllele": "C",
          "start": 1534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "XM_005247358.3:c.1354C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005247415.1:p.Arg452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532813"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 634,
          "referenceAllele": "C",
          "start": 633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "XM_011512686.2:c.568C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011510988.1:p.Arg190="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542635"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1605,
          "referenceAllele": "C",
          "start": 1604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "XM_017006164.2:c.1402C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016861653.1:p.Arg468="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561258"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1718,
          "referenceAllele": "C",
          "start": 1717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "NM_001199179.2:c.1402C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001186108.1:p.Arg468="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679513"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1730,
          "referenceAllele": "C",
          "start": 1729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "NM_001199180.2:c.1504C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001186109.1:p.Arg502="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679514"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1730,
          "referenceAllele": "C",
          "start": 1729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "NM_001199181.2:c.1504C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001186110.1:p.Arg502="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679515"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1613,
          "referenceAllele": "C",
          "start": 1612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "NM_001199182.2:c.1387C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001186111.1:p.Arg463="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679516"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1650,
          "referenceAllele": "C",
          "start": 1649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "NM_001199183.2:c.1354C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001186112.1:p.Arg452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679517"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1650,
          "referenceAllele": "C",
          "start": 1649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "NM_001199184.2:c.1354C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001186113.1:p.Arg452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679518"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1622,
          "referenceAllele": "C",
          "start": 1621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "NM_001199185.2:c.1402C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001186114.1:p.Arg468="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679519"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068390513",
      "coordinates": [
        {
          "allele": "C",
          "end": 1622,
          "referenceAllele": "C",
          "start": 1621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "NM_014382.4:c.1402C="
      ],
      "proteinEffect": {
        "hgvs": "NP_055197.2:p.Arg468="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697246"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1836,
          "referenceAllele": "C",
          "start": 1835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "NM_001001485.3:c.1402C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001001485.1:p.Arg468="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710915"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1836,
          "referenceAllele": "C",
          "start": 1835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "NM_001001486.2:c.1402C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001001486.1:p.Arg468="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710916"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1836,
          "referenceAllele": "C",
          "start": 1835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "NM_001001487.2:c.1402C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001001487.1:p.Arg468="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710917"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1718,
          "referenceAllele": "C",
          "start": 1717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "NM_001199179.3:c.1402C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001186108.1:p.Arg468="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713953"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1730,
          "referenceAllele": "C",
          "start": 1729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "NM_001199181.3:c.1504C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001186110.1:p.Arg502="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713954"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1650,
          "referenceAllele": "C",
          "start": 1649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "NM_001199184.3:c.1354C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001186113.1:p.Arg452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713955"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1730,
          "referenceAllele": "C",
          "start": 1729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "NM_001378511.1:c.1504C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001365440.1:p.Arg502="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721740"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1718,
          "referenceAllele": "C",
          "start": 1717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "NM_001378512.1:c.1402C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001365441.1:p.Arg468="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721741"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1718,
          "referenceAllele": "C",
          "start": 1717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "NM_001378513.1:c.1402C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001365442.1:p.Arg468="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721742"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1650,
          "referenceAllele": "C",
          "start": 1649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "NM_001378514.1:c.1354C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001365443.1:p.Arg452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721743"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1836,
          "referenceAllele": "C",
          "start": 1835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "NM_001378687.1:c.1402C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001365616.1:p.Arg468="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721818",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000510168.6:c.1402C="
          },
          "RefSeq": {
            "hgvs": "NM_001378687.1:c.1402C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000427461.1:p.Arg468="
          },
          "RefSeq": {
            "hgvs": "NP_001365616.1:p.Arg468="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3068390513",
      "coordinates": [
        {
          "allele": "C",
          "end": 1622,
          "referenceAllele": "C",
          "start": 1621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013211",
      "geneNCBI_id": 27032,
      "geneSymbol": "ATP2C1",
      "hgvs": [
        "NM_014382.5:c.1402C="
      ],
      "proteinEffect": {
        "hgvs": "NP_055197.2:p.Arg468="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727959"
    }
  ],
  "type": "nucleotide"
}