{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1723579476",
  "communityStandardTitle": [
    "NM_000443.4(ABCB4):c.431G= (p.Arg144=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/863225299",
        "rs": 863225299
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 87453049,
          "referenceAllele": "C",
          "start": 87453048
        }
      ],
      "hgvs": [
        "NC_000007.14:g.87453049C=",
        "CM000669.2:g.87453049C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 87082365,
          "referenceAllele": "C",
          "start": 87082364
        }
      ],
      "hgvs": [
        "NC_000007.13:g.87082365C=",
        "CM000669.1:g.87082365C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 86920301,
          "referenceAllele": "C",
          "start": 86920300
        }
      ],
      "hgvs": [
        "NC_000007.12:g.86920301C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 32384,
          "referenceAllele": "G",
          "start": 32383
        }
      ],
      "hgvs": [
        "NG_007118.1:g.32384G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000492"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 32384,
          "referenceAllele": "G",
          "start": 32383
        }
      ],
      "hgvs": [
        "NG_007118.2:g.32384G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673479"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 515,
          "referenceAllele": "G",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "ENST00000359206.8:c.431G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352135.3:p.Arg144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749162"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 374,
          "referenceAllele": "G",
          "start": 373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "ENST00000643670.1:c.374G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496629.1:p.Arg125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767402"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 462,
          "referenceAllele": "G",
          "start": 461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "ENST00000644106.1:c.431G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493477.1:p.Arg144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767635"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 484,
          "referenceAllele": "G",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "ENST00000649586.2:c.431G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496956.2:p.Arg144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770621",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649586.2:c.431G="
          },
          "RefSeq": {
            "hgvs": "NM_000443.4:c.431G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496956.2:p.Arg144="
          },
          "RefSeq": {
            "hgvs": "NP_000434.1:p.Arg144="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 543,
          "referenceAllele": "G",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "ENST00000265723.8:c.431G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265723.4:p.Arg144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251806"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 507,
          "referenceAllele": "G",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "ENST00000358400.7:c.431G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351172.3:p.Arg144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264440"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 463,
          "referenceAllele": "G",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "ENST00000359206.7:c.431G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352135.3:p.Arg144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264714"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 431,
          "referenceAllele": "G",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "ENST00000453593.5:c.431G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392983.1:p.Arg144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302181"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 438,
          "referenceAllele": "G",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "ENST00000473795.1:n.438G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315456"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073453203",
      "coordinates": [
        {
          "allele": "G",
          "end": 507,
          "referenceAllele": "G",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "NM_000443.3:c.431G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000434.1:p.Arg144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006505"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 507,
          "referenceAllele": "G",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "NM_018849.2:c.431G="
      ],
      "proteinEffect": {
        "hgvs": "NP_061337.1:p.Arg144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035904"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 507,
          "referenceAllele": "G",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "NM_018850.2:c.431G="
      ],
      "proteinEffect": {
        "hgvs": "NP_061338.1:p.Arg144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035905"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 522,
          "referenceAllele": "G",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516308.1:c.431G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514610.1:p.Arg144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083511"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 521,
          "referenceAllele": "G",
          "start": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516309.1:c.431G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514611.1:p.Arg144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083512"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 522,
          "referenceAllele": "G",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516310.1:c.431G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514612.1:p.Arg144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083513"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 522,
          "referenceAllele": "G",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516311.1:c.431G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514613.1:p.Arg144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083514"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 522,
          "referenceAllele": "G",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516312.1:c.431G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514614.1:p.Arg144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083515"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 521,
          "referenceAllele": "G",
          "start": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516313.1:c.431G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514615.1:p.Arg144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083516"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1828,
          "referenceAllele": "G",
          "start": 1827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516314.1:c.452G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514616.1:p.Arg151="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083517"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 527,
          "referenceAllele": "G",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XR_927478.1:n.527G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123883"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1386,
          "referenceAllele": "G",
          "start": 1385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516308.3:c.701G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514610.3:p.Arg234="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544111"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1382,
          "referenceAllele": "G",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516309.3:c.701G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514611.3:p.Arg234="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544112"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1389,
          "referenceAllele": "G",
          "start": 1388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516310.3:c.701G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514612.3:p.Arg234="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544113"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1387,
          "referenceAllele": "G",
          "start": 1386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516311.3:c.701G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514613.3:p.Arg234="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544114"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1385,
          "referenceAllele": "G",
          "start": 1384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516312.3:c.701G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514614.3:p.Arg234="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544115"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1380,
          "referenceAllele": "G",
          "start": 1379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516313.3:c.701G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514615.2:p.Arg234="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544116"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 518,
          "referenceAllele": "G",
          "start": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_017012323.2:c.431G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867812.1:p.Arg144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565953"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1202,
          "referenceAllele": "G",
          "start": 1201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XR_001744809.2:n.1202G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593460"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1197,
          "referenceAllele": "G",
          "start": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XR_001744810.2:n.1197G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593461"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073453203",
      "coordinates": [
        {
          "allele": "G",
          "end": 484,
          "referenceAllele": "G",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "NM_000443.4:c.431G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000434.1:p.Arg144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674848",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649586.2:c.431G="
          },
          "RefSeq": {
            "hgvs": "NM_000443.4:c.431G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496956.2:p.Arg144="
          },
          "RefSeq": {
            "hgvs": "NP_000434.1:p.Arg144="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 484,
          "referenceAllele": "G",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "NM_018849.3:c.431G="
      ],
      "proteinEffect": {
        "hgvs": "NP_061337.1:p.Arg144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698090"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 484,
          "referenceAllele": "G",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "NM_018850.3:c.431G="
      ],
      "proteinEffect": {
        "hgvs": "NP_061338.1:p.Arg144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728359"
    }
  ],
  "type": "nucleotide"
}