{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4326928",
  "communityStandardTitle": [
    "NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=265376[alleleid]",
        "alleleId": 265376,
        "preferredName": "NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/281139",
        "RCV": [
          "RCV000322710",
          "RCV000413855",
          "RCV000987905",
          "RCV001164952",
          "RCV002252078",
          "RCV004529459",
          "RCV001164953",
          "RCV003989517"
        ],
        "variationId": 281139
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-87041333-C-T",
        "id": "7-87041333-C-T",
        "variant": "7:87041333 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.87041333C>T?assembly=hg19",
        "id": "chr7:g.87041333C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.87412017C>T?assembly=hg38",
        "id": "chr7:g.87412017C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/61730509",
        "rs": 61730509
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-87041333-C-T?dataset=gnomad_r2_1",
        "id": "7-87041333-C-T",
        "variant": "7:87041333 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-87412017-C-T?dataset=gnomad_r3",
        "id": "7-87412017-C-T",
        "variant": "7:87412017 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-87412017-C-T?dataset=gnomad_r4",
        "id": "7-87412017-C-T",
        "variant": "7:87412017 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 87412017,
          "referenceAllele": "C",
          "start": 87412016
        }
      ],
      "hgvs": [
        "NC_000007.14:g.87412017C>T",
        "CM000669.2:g.87412017C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 87041333,
          "referenceAllele": "C",
          "start": 87041332
        }
      ],
      "hgvs": [
        "NC_000007.13:g.87041333C>T",
        "CM000669.1:g.87041333C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 86879269,
          "referenceAllele": "C",
          "start": 86879268
        }
      ],
      "hgvs": [
        "NC_000007.12:g.86879269C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 73416,
          "referenceAllele": "G",
          "start": 73415
        }
      ],
      "hgvs": [
        "NG_007118.1:g.73416G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000492"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 73416,
          "referenceAllele": "G",
          "start": 73415
        }
      ],
      "hgvs": [
        "NG_007118.2:g.73416G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673479"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2884,
          "referenceAllele": "G",
          "start": 2883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "ENST00000359206.8:c.2800G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352135.3:p.Ala934Thr",
        "hgvsWellDefined": "ENSP00000352135.3:p.Ala934Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749162"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2853,
          "referenceAllele": "G",
          "start": 2852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "ENST00000649586.2:c.2800G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496956.2:p.Ala934Thr",
        "hgvsWellDefined": "ENSP00000496956.2:p.Ala934Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770621",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649586.2:c.2800G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000443.4:c.2800G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496956.2:p.Ala934Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000434.1:p.Ala934Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2912,
          "referenceAllele": "G",
          "start": 2911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "ENST00000265723.8:c.2800G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265723.4:p.Ala934Thr",
        "hgvsWellDefined": "ENSP00000265723.4:p.Ala934Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251806"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2859,
          "endIntronDirection": "+",
          "endIntronOffset": 1600,
          "referenceAllele": "G",
          "start": 2859,
          "startIntronDirection": "+",
          "startIntronOffset": 1599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "ENST00000358400.7:c.2783+1600G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351172.3:n.2783+1600G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264440"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2832,
          "referenceAllele": "G",
          "start": 2831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "ENST00000359206.7:c.2800G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352135.3:p.Ala934Thr",
        "hgvsWellDefined": "ENSP00000352135.3:p.Ala934Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264714"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2783,
          "endIntronDirection": "+",
          "endIntronOffset": 1600,
          "referenceAllele": "G",
          "start": 2783,
          "startIntronDirection": "+",
          "startIntronOffset": 1599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "ENST00000453593.5:c.2783+1600G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392983.1:n.2783+1600G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302181"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825171841",
      "coordinates": [
        {
          "allele": "A",
          "end": 2876,
          "referenceAllele": "G",
          "start": 2875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "NM_000443.3:c.2800G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000434.1:p.Ala934Thr",
        "hgvsWellDefined": "NP_000434.1:p.Ala934Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006505"
    },
    {
      "@id": "http://reg.genome.network/allele/PA103960",
      "coordinates": [
        {
          "allele": "A",
          "end": 2876,
          "referenceAllele": "G",
          "start": 2875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "NM_018849.2:c.2800G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_061337.1:p.Ala934Thr",
        "hgvsWellDefined": "NP_061337.1:p.Ala934Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035904"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2859,
          "endIntronDirection": "+",
          "endIntronOffset": 1600,
          "referenceAllele": "G",
          "start": 2859,
          "startIntronDirection": "+",
          "startIntronOffset": 1599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "NM_018850.2:c.2783+1600G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_061338.1:n.2783+1600G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035905"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2891,
          "referenceAllele": "G",
          "start": 2890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516308.1:c.2800G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514610.1:p.Ala934Thr",
        "hgvsWellDefined": "XP_011514610.1:p.Ala934Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083511"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2890,
          "referenceAllele": "G",
          "start": 2889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516309.1:c.2800G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514611.1:p.Ala934Thr",
        "hgvsWellDefined": "XP_011514611.1:p.Ala934Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083512"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2786,
          "referenceAllele": "G",
          "start": 2785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516310.1:c.2695G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514612.1:p.Ala899Thr",
        "hgvsWellDefined": "XP_011514612.1:p.Ala899Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083513"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2874,
          "endIntronDirection": "-",
          "endIntronOffset": 112,
          "referenceAllele": "G",
          "start": 2874,
          "startIntronDirection": "-",
          "startIntronOffset": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516311.1:c.2784-113G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514613.1:n.2784-113G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083514"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2874,
          "endIntronDirection": "+",
          "endIntronOffset": 1600,
          "referenceAllele": "G",
          "start": 2874,
          "startIntronDirection": "+",
          "startIntronOffset": 1599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516312.1:c.2783+1600G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514614.1:n.2783+1600G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083515"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2873,
          "endIntronDirection": "+",
          "endIntronOffset": 1600,
          "referenceAllele": "G",
          "start": 2873,
          "startIntronDirection": "+",
          "startIntronOffset": 1599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516313.1:c.2783+1600G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514615.1:n.2783+1600G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083516"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4197,
          "referenceAllele": "G",
          "start": 4196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516314.1:c.2821G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514616.1:p.Ala941Thr",
        "hgvsWellDefined": "XP_011514616.1:p.Ala941Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083517"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2276,
          "referenceAllele": "G",
          "start": 2275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516315.1:c.2140G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514617.1:p.Ala714Thr",
        "hgvsWellDefined": "XP_011514617.1:p.Ala714Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083518"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2778,
          "endIntronDirection": "-",
          "endIntronOffset": 2624,
          "referenceAllele": "G",
          "start": 2778,
          "startIntronDirection": "-",
          "startIntronOffset": 2625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XR_927478.1:n.2779-2625G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123883"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3755,
          "referenceAllele": "G",
          "start": 3754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516308.3:c.3070G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514610.3:p.Ala1024Thr",
        "hgvsWellDefined": "XP_011514610.3:p.Ala1024Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544111"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3751,
          "referenceAllele": "G",
          "start": 3750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516309.3:c.3070G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514611.3:p.Ala1024Thr",
        "hgvsWellDefined": "XP_011514611.3:p.Ala1024Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544112"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3653,
          "referenceAllele": "G",
          "start": 3652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516310.3:c.2965G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514612.3:p.Ala989Thr",
        "hgvsWellDefined": "XP_011514612.3:p.Ala989Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544113"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3739,
          "endIntronDirection": "-",
          "endIntronOffset": 112,
          "referenceAllele": "G",
          "start": 3739,
          "startIntronDirection": "-",
          "startIntronOffset": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516311.3:c.3054-113G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514613.3:n.3054-113G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544114"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3737,
          "endIntronDirection": "+",
          "endIntronOffset": 1600,
          "referenceAllele": "G",
          "start": 3737,
          "startIntronDirection": "+",
          "startIntronOffset": 1599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516312.3:c.3053+1600G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514614.3:n.3053+1600G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544115"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3732,
          "endIntronDirection": "+",
          "endIntronOffset": 1600,
          "referenceAllele": "G",
          "start": 3732,
          "startIntronDirection": "+",
          "startIntronOffset": 1599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516313.3:c.3053+1600G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514615.2:n.3053+1600G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544116"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2276,
          "referenceAllele": "G",
          "start": 2275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_011516315.3:c.2140G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514617.2:p.Ala714Thr",
        "hgvsWellDefined": "XP_011514617.2:p.Ala714Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544117"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2887,
          "referenceAllele": "G",
          "start": 2886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XM_017012323.2:c.2800G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867812.1:p.Ala934Thr",
        "hgvsWellDefined": "XP_016867812.1:p.Ala934Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565953"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3453,
          "endIntronDirection": "-",
          "endIntronOffset": 2624,
          "referenceAllele": "G",
          "start": 3453,
          "startIntronDirection": "-",
          "startIntronOffset": 2625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "XR_001744809.2:n.3454-2625G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS593460"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825171841",
      "coordinates": [
        {
          "allele": "A",
          "end": 2853,
          "referenceAllele": "G",
          "start": 2852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "NM_000443.4:c.2800G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000434.1:p.Ala934Thr",
        "hgvsWellDefined": "NP_000434.1:p.Ala934Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674848",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649586.2:c.2800G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000443.4:c.2800G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496956.2:p.Ala934Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000434.1:p.Ala934Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA103960",
      "coordinates": [
        {
          "allele": "A",
          "end": 2853,
          "referenceAllele": "G",
          "start": 2852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "NM_018849.3:c.2800G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_061337.1:p.Ala934Thr",
        "hgvsWellDefined": "NP_061337.1:p.Ala934Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698090"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2836,
          "endIntronDirection": "+",
          "endIntronOffset": 1600,
          "referenceAllele": "G",
          "start": 2836,
          "startIntronDirection": "+",
          "startIntronOffset": 1599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000045",
      "geneNCBI_id": 5244,
      "geneSymbol": "ABCB4",
      "hgvs": [
        "NM_018850.3:c.2783+1600G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_061338.1:n.2783+1600G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728359"
    }
  ],
  "type": "nucleotide"
}