{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA274068",
  "communityStandardTitle": [
    "NM_138694.4(PKHD1):c.2279G>A (p.Arg760His)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4536229",
        "active": true,
        "id": "COSM4536229"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4536230",
        "active": true,
        "id": "COSM4536230"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=186714[alleleid]",
        "alleleId": 186714,
        "preferredName": "NM_138694.4(PKHD1):c.2279G>A (p.Arg760His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/188876",
        "RCV": [
          "RCV000169230",
          "RCV001283774",
          "RCV003927564"
        ],
        "variationId": 188876
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-51914955-C-T",
        "id": "6-51914955-C-T",
        "variant": "6:51914955 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.51914955C>T?assembly=hg19",
        "id": "chr6:g.51914955C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.52050157C>T?assembly=hg38",
        "id": "chr6:g.52050157C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/745770404",
        "rs": 745770404
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-51914955-C-T?dataset=gnomad_r2_1",
        "id": "6-51914955-C-T",
        "variant": "6:51914955 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-52050157-C-T?dataset=gnomad_r3",
        "id": "6-52050157-C-T",
        "variant": "6:52050157 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-52050157-C-T?dataset=gnomad_r4",
        "id": "6-52050157-C-T",
        "variant": "6:52050157 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 52050157,
          "referenceAllele": "C",
          "start": 52050156
        }
      ],
      "hgvs": [
        "NC_000006.12:g.52050157C>T",
        "CM000668.2:g.52050157C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 51914955,
          "referenceAllele": "C",
          "start": 51914954
        }
      ],
      "hgvs": [
        "NC_000006.11:g.51914955C>T",
        "CM000668.1:g.51914955C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 52022914,
          "referenceAllele": "C",
          "start": 52022913
        }
      ],
      "hgvs": [
        "NC_000006.10:g.52022914C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 42469,
          "referenceAllele": "G",
          "start": 42468
        }
      ],
      "hgvs": [
        "NG_008753.1:g.42469G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001200"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2543,
          "referenceAllele": "G",
          "start": 2542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "ENST00000371117.8:c.2279G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360158.3:p.Arg760His",
        "hgvsWellDefined": "ENSP00000360158.3:p.Arg760His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750727",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371117.8:c.2279G>A"
          },
          "RefSeq": {
            "hgvs": "NM_138694.4:c.2279G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360158.3:p.Arg760His"
          },
          "RefSeq": {
            "hgvs": "NP_619639.3:p.Arg760His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2540,
          "referenceAllele": "G",
          "start": 2539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "ENST00000340994.4:c.2279G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341097.4:p.Arg760His",
        "hgvsWellDefined": "ENSP00000341097.4:p.Arg760His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261231"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2555,
          "referenceAllele": "G",
          "start": 2554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "ENST00000371117.7:c.2279G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360158.3:p.Arg760His",
        "hgvsWellDefined": "ENSP00000360158.3:p.Arg760His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268422"
    },
    {
      "@id": "http://reg.genome.network/allele/PA097857",
      "coordinates": [
        {
          "allele": "A",
          "end": 2555,
          "referenceAllele": "G",
          "start": 2554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "NM_138694.3:c.2279G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_619639.3:p.Arg760His",
        "hgvsWellDefined": "NP_619639.3:p.Arg760His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040823"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916059013",
      "coordinates": [
        {
          "allele": "A",
          "end": 2555,
          "referenceAllele": "G",
          "start": 2554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "NM_170724.2:c.2279G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_733842.2:p.Arg760His",
        "hgvsWellDefined": "NP_733842.2:p.Arg760His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042573"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2379,
          "referenceAllele": "G",
          "start": 2378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514679.1:c.2279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512981.1:p.Arg760His",
        "hgvsWellDefined": "XP_011512981.1:p.Arg760His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081904"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2391,
          "referenceAllele": "G",
          "start": 2390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514680.1:c.2279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512982.1:p.Arg760His",
        "hgvsWellDefined": "XP_011512982.1:p.Arg760His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081905"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2530,
          "referenceAllele": "G",
          "start": 2529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514681.1:c.2279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512983.1:p.Arg760His",
        "hgvsWellDefined": "XP_011512983.1:p.Arg760His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081906"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2530,
          "referenceAllele": "G",
          "start": 2529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514682.1:c.2279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512984.1:p.Arg760His",
        "hgvsWellDefined": "XP_011512984.1:p.Arg760His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081907"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2530,
          "referenceAllele": "G",
          "start": 2529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514683.1:c.2279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512985.1:p.Arg760His",
        "hgvsWellDefined": "XP_011512985.1:p.Arg760His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081908"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1652,
          "referenceAllele": "G",
          "start": 1651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514684.1:c.1568G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512986.1:p.Arg523His",
        "hgvsWellDefined": "XP_011512986.1:p.Arg523His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081909"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2555,
          "referenceAllele": "G",
          "start": 2554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514685.1:c.2279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512987.1:p.Arg760His",
        "hgvsWellDefined": "XP_011512987.1:p.Arg760His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081910"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2555,
          "referenceAllele": "G",
          "start": 2554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514686.1:c.2279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512988.1:p.Arg760His",
        "hgvsWellDefined": "XP_011512988.1:p.Arg760His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081911"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2555,
          "referenceAllele": "G",
          "start": 2554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514687.1:c.2279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512989.1:p.Arg760His",
        "hgvsWellDefined": "XP_011512989.1:p.Arg760His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081912"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2530,
          "referenceAllele": "G",
          "start": 2529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514688.1:c.2279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512990.1:p.Arg760His",
        "hgvsWellDefined": "XP_011512990.1:p.Arg760His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081913"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2530,
          "referenceAllele": "G",
          "start": 2529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514689.1:c.2279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512991.1:p.Arg760His",
        "hgvsWellDefined": "XP_011512991.1:p.Arg760His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081914"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2899,
          "referenceAllele": "G",
          "start": 2898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514680.3:c.2279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512982.1:p.Arg760His",
        "hgvsWellDefined": "XP_011512982.1:p.Arg760His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543423"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2521,
          "referenceAllele": "G",
          "start": 2520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514682.3:c.2279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512984.1:p.Arg760His",
        "hgvsWellDefined": "XP_011512984.1:p.Arg760His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543424"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2521,
          "referenceAllele": "G",
          "start": 2520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514683.3:c.2279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512985.1:p.Arg760His",
        "hgvsWellDefined": "XP_011512985.1:p.Arg760His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1665,
          "referenceAllele": "G",
          "start": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514684.3:c.1568G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512986.1:p.Arg523His",
        "hgvsWellDefined": "XP_011512986.1:p.Arg523His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543426"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2555,
          "referenceAllele": "G",
          "start": 2554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514686.2:c.2279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512988.1:p.Arg760His",
        "hgvsWellDefined": "XP_011512988.1:p.Arg760His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543427"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2521,
          "referenceAllele": "G",
          "start": 2520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514688.2:c.2279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512990.1:p.Arg760His",
        "hgvsWellDefined": "XP_011512990.1:p.Arg760His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543428"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2381,
          "referenceAllele": "G",
          "start": 2380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010944.2:c.2279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866433.1:p.Arg760His",
        "hgvsWellDefined": "XP_016866433.1:p.Arg760His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564897"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2446,
          "referenceAllele": "G",
          "start": 2445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010945.2:c.2204G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866434.1:p.Arg735His",
        "hgvsWellDefined": "XP_016866434.1:p.Arg735His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564898"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2521,
          "referenceAllele": "G",
          "start": 2520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010946.2:c.2279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866435.1:p.Arg760His",
        "hgvsWellDefined": "XP_016866435.1:p.Arg760His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564899"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2521,
          "referenceAllele": "G",
          "start": 2520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010947.2:c.2279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866436.1:p.Arg760His",
        "hgvsWellDefined": "XP_016866436.1:p.Arg760His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564900"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2339,
          "referenceAllele": "G",
          "start": 2338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010948.2:c.1568G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866437.1:p.Arg523His",
        "hgvsWellDefined": "XP_016866437.1:p.Arg523His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564901"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1518,
          "referenceAllele": "G",
          "start": 1517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010949.2:c.419G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866438.1:p.Arg140His",
        "hgvsWellDefined": "XP_016866438.1:p.Arg140His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564902"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2555,
          "referenceAllele": "G",
          "start": 2554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010950.1:c.2279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866439.1:p.Arg760His",
        "hgvsWellDefined": "XP_016866439.1:p.Arg760His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564903"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2521,
          "referenceAllele": "G",
          "start": 2520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010951.1:c.2279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866440.1:p.Arg760His",
        "hgvsWellDefined": "XP_016866440.1:p.Arg760His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564904"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2521,
          "referenceAllele": "G",
          "start": 2520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010952.1:c.2279G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866441.1:p.Arg760His",
        "hgvsWellDefined": "XP_016866441.1:p.Arg760His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564905"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2555,
          "referenceAllele": "G",
          "start": 2554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XR_001743469.1:n.2555G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592682"
    },
    {
      "@id": "http://reg.genome.network/allele/PA097857",
      "coordinates": [
        {
          "allele": "A",
          "end": 2543,
          "referenceAllele": "G",
          "start": 2542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "NM_138694.4:c.2279G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_619639.3:p.Arg760His",
        "hgvsWellDefined": "NP_619639.3:p.Arg760His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699767",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371117.8:c.2279G>A"
          },
          "RefSeq": {
            "hgvs": "NM_138694.4:c.2279G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360158.3:p.Arg760His"
          },
          "RefSeq": {
            "hgvs": "NP_619639.3:p.Arg760His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916059013",
      "coordinates": [
        {
          "allele": "A",
          "end": 2543,
          "referenceAllele": "G",
          "start": 2542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "NM_170724.3:c.2279G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_733842.2:p.Arg760His",
        "hgvsWellDefined": "NP_733842.2:p.Arg760His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700451"
    }
  ],
  "type": "nucleotide"
}