{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA201123",
  "communityStandardTitle": [
    "NM_000443.4(ABCB4):c.1584G>C (p.Glu528Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=191497[alleleid]",
        "alleleId": 191497,
        "preferredName": "NM_000443.4(ABCB4):c.1584G>C (p.Glu528Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/194334",
        "RCV": [
          "RCV000174682",
          "RCV001161562",
          "RCV001161563",
          "RCV000961801"
        ],
        "variationId": 194334
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-87069130-C-G",
        "id": "7-87069130-C-G",
        "variant": "7:87069130 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.87069130C>G?assembly=hg19",
        "id": "chr7:g.87069130C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.87439814C>G?assembly=hg38",
        "id": "chr7:g.87439814C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/8187797",
        "rs": 8187797
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-87069130-C-G?dataset=gnomad_r2_1",
        "id": "7-87069130-C-G",
        "variant": "7:87069130 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-87439814-C-G?dataset=gnomad_r3",
        "id": "7-87439814-C-G",
        "variant": "7:87439814 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-87439814-C-G?dataset=gnomad_r4",
        "id": "7-87439814-C-G",
        "variant": "7:87439814 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 87439814,
          "referenceAllele": "C",
          "start": 87439813
        }
      ],
      "hgvs": [
        "NC_000007.14:g.87439814C>G",
        "CM000669.2:g.87439814C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 87069130,
          "referenceAllele": "C",
          "start": 87069129
        }
      ],
      "hgvs": [
        "NC_000007.13:g.87069130C>G",
        "CM000669.1:g.87069130C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 86907066,
          "referenceAllele": "C",
          "start": 86907065
        }
      ],
      "hgvs": [
        "NC_000007.12:g.86907066C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 45619,
          "referenceAllele": "G",
          "start": 45618
        }
      ],
      "hgvs": [
        "NG_007118.1:g.45619G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000492"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 45619,
          "referenceAllele": "G",
          "start": 45618
        }
      ],
      "hgvs": [
        "NG_007118.2:g.45619G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673479"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1668,
          "referenceAllele": "G",
          "start": 1667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "ENST00000359206.8:c.1584G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352135.3:p.Glu528Asp",
        "hgvsWellDefined": "ENSP00000352135.3:p.Glu528Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749162"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1600,
          "referenceAllele": "G",
          "start": 1599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "ENST00000643670.1:c.1600G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496629.1:n.1600G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767402"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1704,
          "referenceAllele": "G",
          "start": 1703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "ENST00000644106.1:c.*1121G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493477.1:n.*1121G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767635"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1637,
          "referenceAllele": "G",
          "start": 1636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "ENST00000649586.2:c.1584G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496956.2:p.Glu528Asp",
        "hgvsWellDefined": "ENSP00000496956.2:p.Glu528Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770621",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649586.2:c.1584G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000443.4:c.1584G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496956.2:p.Glu528Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000434.1:p.Glu528Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1696,
          "referenceAllele": "G",
          "start": 1695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "ENST00000265723.8:c.1584G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265723.4:p.Glu528Asp",
        "hgvsWellDefined": "ENSP00000265723.4:p.Glu528Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251806"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1660,
          "referenceAllele": "G",
          "start": 1659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "ENST00000358400.7:c.1584G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351172.3:p.Glu528Asp",
        "hgvsWellDefined": "ENSP00000351172.3:p.Glu528Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264440"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1616,
          "referenceAllele": "G",
          "start": 1615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "ENST00000359206.7:c.1584G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352135.3:p.Glu528Asp",
        "hgvsWellDefined": "ENSP00000352135.3:p.Glu528Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264714"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1584,
          "referenceAllele": "G",
          "start": 1583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "ENST00000453593.5:c.1584G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392983.1:p.Glu528Asp",
        "hgvsWellDefined": "ENSP00000392983.1:p.Glu528Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302181"
    },
    {
      "@id": "http://reg.genome.network/allele/PA201124",
      "coordinates": [
        {
          "allele": "C",
          "end": 1660,
          "referenceAllele": "G",
          "start": 1659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "NM_000443.3:c.1584G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000434.1:p.Glu528Asp",
        "hgvsWellDefined": "NP_000434.1:p.Glu528Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006505"
    },
    {
      "@id": "http://reg.genome.network/allele/PA201125",
      "coordinates": [
        {
          "allele": "C",
          "end": 1660,
          "referenceAllele": "G",
          "start": 1659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "NM_018849.2:c.1584G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_061337.1:p.Glu528Asp",
        "hgvsWellDefined": "NP_061337.1:p.Glu528Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035904"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916068229",
      "coordinates": [
        {
          "allele": "C",
          "end": 1660,
          "referenceAllele": "G",
          "start": 1659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "NM_018850.2:c.1584G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_061338.1:p.Glu528Asp",
        "hgvsWellDefined": "NP_061338.1:p.Glu528Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035905"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1675,
          "referenceAllele": "G",
          "start": 1674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516308.1:c.1584G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514610.1:p.Glu528Asp",
        "hgvsWellDefined": "XP_011514610.1:p.Glu528Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083511"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1674,
          "referenceAllele": "G",
          "start": 1673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516309.1:c.1584G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514611.1:p.Glu528Asp",
        "hgvsWellDefined": "XP_011514611.1:p.Glu528Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083512"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1675,
          "referenceAllele": "G",
          "start": 1674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516310.1:c.1584G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514612.1:p.Glu528Asp",
        "hgvsWellDefined": "XP_011514612.1:p.Glu528Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083513"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1675,
          "referenceAllele": "G",
          "start": 1674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516311.1:c.1584G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514613.1:p.Glu528Asp",
        "hgvsWellDefined": "XP_011514613.1:p.Glu528Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083514"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1675,
          "referenceAllele": "G",
          "start": 1674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516312.1:c.1584G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514614.1:p.Glu528Asp",
        "hgvsWellDefined": "XP_011514614.1:p.Glu528Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083515"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1674,
          "referenceAllele": "G",
          "start": 1673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516313.1:c.1584G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514615.1:p.Glu528Asp",
        "hgvsWellDefined": "XP_011514615.1:p.Glu528Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083516"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2981,
          "referenceAllele": "G",
          "start": 2980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516314.1:c.1605G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514616.1:p.Glu535Asp",
        "hgvsWellDefined": "XP_011514616.1:p.Glu535Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083517"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1060,
          "referenceAllele": "G",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516315.1:c.924G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514617.1:p.Glu308Asp",
        "hgvsWellDefined": "XP_011514617.1:p.Glu308Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083518"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1680,
          "referenceAllele": "G",
          "start": 1679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XR_927478.1:n.1680G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123883"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2539,
          "referenceAllele": "G",
          "start": 2538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516308.3:c.1854G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514610.3:p.Glu618Asp",
        "hgvsWellDefined": "XP_011514610.3:p.Glu618Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544111"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2535,
          "referenceAllele": "G",
          "start": 2534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516309.3:c.1854G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514611.3:p.Glu618Asp",
        "hgvsWellDefined": "XP_011514611.3:p.Glu618Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544112"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2542,
          "referenceAllele": "G",
          "start": 2541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516310.3:c.1854G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514612.3:p.Glu618Asp",
        "hgvsWellDefined": "XP_011514612.3:p.Glu618Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544113"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2540,
          "referenceAllele": "G",
          "start": 2539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516311.3:c.1854G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514613.3:p.Glu618Asp",
        "hgvsWellDefined": "XP_011514613.3:p.Glu618Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544114"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2538,
          "referenceAllele": "G",
          "start": 2537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516312.3:c.1854G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514614.3:p.Glu618Asp",
        "hgvsWellDefined": "XP_011514614.3:p.Glu618Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544115"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2533,
          "referenceAllele": "G",
          "start": 2532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516313.3:c.1854G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514615.2:p.Glu618Asp",
        "hgvsWellDefined": "XP_011514615.2:p.Glu618Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544116"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1060,
          "referenceAllele": "G",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516315.3:c.924G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514617.2:p.Glu308Asp",
        "hgvsWellDefined": "XP_011514617.2:p.Glu308Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544117"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1671,
          "referenceAllele": "G",
          "start": 1670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_017012323.2:c.1584G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867812.1:p.Glu528Asp",
        "hgvsWellDefined": "XP_016867812.1:p.Glu528Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565953"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2355,
          "referenceAllele": "G",
          "start": 2354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XR_001744809.2:n.2355G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593460"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2350,
          "referenceAllele": "G",
          "start": 2349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XR_001744810.2:n.2350G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593461"
    },
    {
      "@id": "http://reg.genome.network/allele/PA201124",
      "coordinates": [
        {
          "allele": "C",
          "end": 1637,
          "referenceAllele": "G",
          "start": 1636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "NM_000443.4:c.1584G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000434.1:p.Glu528Asp",
        "hgvsWellDefined": "NP_000434.1:p.Glu528Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674848",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649586.2:c.1584G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000443.4:c.1584G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496956.2:p.Glu528Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000434.1:p.Glu528Asp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA201125",
      "coordinates": [
        {
          "allele": "C",
          "end": 1637,
          "referenceAllele": "G",
          "start": 1636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "NM_018849.3:c.1584G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_061337.1:p.Glu528Asp",
        "hgvsWellDefined": "NP_061337.1:p.Glu528Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698090"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916068229",
      "coordinates": [
        {
          "allele": "C",
          "end": 1637,
          "referenceAllele": "G",
          "start": 1636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "NM_018850.3:c.1584G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_061338.1:p.Glu528Asp",
        "hgvsWellDefined": "NP_061338.1:p.Glu528Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728359"
    }
  ],
  "type": "nucleotide"
}