{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1723567422",
  "communityStandardTitle": [
    "NM_000443.4(ABCB4):c.1210C= (p.Pro404=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/863225298",
        "rs": 863225298
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 87443683,
          "referenceAllele": "G",
          "start": 87443682
        }
      ],
      "hgvs": [
        "NC_000007.14:g.87443683G=",
        "CM000669.2:g.87443683G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 87072999,
          "referenceAllele": "G",
          "start": 87072998
        }
      ],
      "hgvs": [
        "NC_000007.13:g.87072999G=",
        "CM000669.1:g.87072999G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 86910935,
          "referenceAllele": "G",
          "start": 86910934
        }
      ],
      "hgvs": [
        "NC_000007.12:g.86910935G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 41750,
          "referenceAllele": "C",
          "start": 41749
        }
      ],
      "hgvs": [
        "NG_007118.1:g.41750C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000492"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 41750,
          "referenceAllele": "C",
          "start": 41749
        }
      ],
      "hgvs": [
        "NG_007118.2:g.41750C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673479"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1294,
          "referenceAllele": "C",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "ENST00000359206.8:c.1210C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352135.3:p.Pro404="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749162"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1226,
          "referenceAllele": "C",
          "start": 1225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "ENST00000643670.1:c.1226C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496629.1:n.1226C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767402"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1330,
          "referenceAllele": "C",
          "start": 1329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "ENST00000644106.1:c.*747C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493477.1:n.*747C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767635"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1263,
          "referenceAllele": "C",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "ENST00000649586.2:c.1210C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496956.2:p.Pro404="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770621",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649586.2:c.1210C="
          },
          "RefSeq": {
            "hgvs": "NM_000443.4:c.1210C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496956.2:p.Pro404="
          },
          "RefSeq": {
            "hgvs": "NP_000434.1:p.Pro404="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1322,
          "referenceAllele": "C",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "ENST00000265723.8:c.1210C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265723.4:p.Pro404="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251806"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1286,
          "referenceAllele": "C",
          "start": 1285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "ENST00000358400.7:c.1210C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351172.3:p.Pro404="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264440"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1242,
          "referenceAllele": "C",
          "start": 1241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "ENST00000359206.7:c.1210C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352135.3:p.Pro404="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264714"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1210,
          "referenceAllele": "C",
          "start": 1209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "ENST00000453593.5:c.1210C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392983.1:p.Pro404="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302181"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073867319",
      "coordinates": [
        {
          "allele": "C",
          "end": 1286,
          "referenceAllele": "C",
          "start": 1285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "NM_000443.3:c.1210C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000434.1:p.Pro404="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006505"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1286,
          "referenceAllele": "C",
          "start": 1285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "NM_018849.2:c.1210C="
      ],
      "proteinEffect": {
        "hgvs": "NP_061337.1:p.Pro404="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035904"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1286,
          "referenceAllele": "C",
          "start": 1285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "NM_018850.2:c.1210C="
      ],
      "proteinEffect": {
        "hgvs": "NP_061338.1:p.Pro404="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035905"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1301,
          "referenceAllele": "C",
          "start": 1300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516308.1:c.1210C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514610.1:p.Pro404="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083511"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1300,
          "referenceAllele": "C",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516309.1:c.1210C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514611.1:p.Pro404="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083512"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1301,
          "referenceAllele": "C",
          "start": 1300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516310.1:c.1210C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514612.1:p.Pro404="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083513"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1301,
          "referenceAllele": "C",
          "start": 1300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516311.1:c.1210C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514613.1:p.Pro404="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083514"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1301,
          "referenceAllele": "C",
          "start": 1300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516312.1:c.1210C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514614.1:p.Pro404="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083515"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1300,
          "referenceAllele": "C",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516313.1:c.1210C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514615.1:p.Pro404="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083516"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2607,
          "referenceAllele": "C",
          "start": 2606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516314.1:c.1231C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514616.1:p.Pro411="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083517"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 686,
          "referenceAllele": "C",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516315.1:c.550C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514617.1:p.Pro184="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083518"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1306,
          "referenceAllele": "C",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XR_927478.1:n.1306C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123883"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2165,
          "referenceAllele": "C",
          "start": 2164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516308.3:c.1480C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514610.3:p.Pro494="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544111"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2161,
          "referenceAllele": "C",
          "start": 2160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516309.3:c.1480C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514611.3:p.Pro494="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544112"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2168,
          "referenceAllele": "C",
          "start": 2167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516310.3:c.1480C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514612.3:p.Pro494="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544113"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2166,
          "referenceAllele": "C",
          "start": 2165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516311.3:c.1480C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514613.3:p.Pro494="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544114"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2164,
          "referenceAllele": "C",
          "start": 2163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516312.3:c.1480C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514614.3:p.Pro494="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544115"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2159,
          "referenceAllele": "C",
          "start": 2158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516313.3:c.1480C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514615.2:p.Pro494="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544116"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 686,
          "referenceAllele": "C",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516315.3:c.550C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514617.2:p.Pro184="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544117"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1297,
          "referenceAllele": "C",
          "start": 1296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_017012323.2:c.1210C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867812.1:p.Pro404="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565953"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1981,
          "referenceAllele": "C",
          "start": 1980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XR_001744809.2:n.1981C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593460"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1976,
          "referenceAllele": "C",
          "start": 1975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XR_001744810.2:n.1976C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593461"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073867319",
      "coordinates": [
        {
          "allele": "C",
          "end": 1263,
          "referenceAllele": "C",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "NM_000443.4:c.1210C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000434.1:p.Pro404="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674848",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649586.2:c.1210C="
          },
          "RefSeq": {
            "hgvs": "NM_000443.4:c.1210C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496956.2:p.Pro404="
          },
          "RefSeq": {
            "hgvs": "NP_000434.1:p.Pro404="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1263,
          "referenceAllele": "C",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "NM_018849.3:c.1210C="
      ],
      "proteinEffect": {
        "hgvs": "NP_061337.1:p.Pro404="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698090"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1263,
          "referenceAllele": "C",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "NM_018850.3:c.1210C="
      ],
      "proteinEffect": {
        "hgvs": "NP_061338.1:p.Pro404="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728359"
    }
  ],
  "type": "nucleotide"
}