{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA450415846",
  "communityStandardTitle": [
    "NM_138694.4(PKHD1):c.8011C>A (p.Arg2671=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1095199[alleleid]",
        "alleleId": 1095199,
        "preferredName": "NM_138694.4(PKHD1):c.8011C>A (p.Arg2671=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1109014",
        "RCV": [
          "RCV001434714"
        ],
        "variationId": 1109014
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.51712669G>T?assembly=hg19",
        "id": "chr6:g.51712669G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137852947",
        "rs": 137852947
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-51847871-G-T?dataset=gnomad_r4",
        "id": "6-51847871-G-T",
        "variant": "6:51847871 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 51847871,
          "referenceAllele": "G",
          "start": 51847870
        }
      ],
      "hgvs": [
        "NC_000006.12:g.51847871G>T",
        "CM000668.2:g.51847871G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 51712669,
          "referenceAllele": "G",
          "start": 51712668
        }
      ],
      "hgvs": [
        "NC_000006.11:g.51712669G>T",
        "CM000668.1:g.51712669G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 51820628,
          "referenceAllele": "G",
          "start": 51820627
        }
      ],
      "hgvs": [
        "NC_000006.10:g.51820628G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 244755,
          "referenceAllele": "C",
          "start": 244754
        }
      ],
      "hgvs": [
        "NG_008753.1:g.244755C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001200"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8275,
          "referenceAllele": "C",
          "start": 8274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "ENST00000371117.8:c.8011C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360158.3:p.Arg2671="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750727",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371117.8:c.8011C>A"
          },
          "RefSeq": {
            "hgvs": "NM_138694.4:c.8011C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360158.3:p.Arg2671="
          },
          "RefSeq": {
            "hgvs": "NP_619639.3:p.Arg2671="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8272,
          "referenceAllele": "C",
          "start": 8271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "ENST00000340994.4:c.8011C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341097.4:p.Arg2671="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261231"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8287,
          "referenceAllele": "C",
          "start": 8286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "ENST00000371117.7:c.8011C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360158.3:p.Arg2671="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268422"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830257886",
      "coordinates": [
        {
          "allele": "A",
          "end": 8287,
          "referenceAllele": "C",
          "start": 8286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "NM_138694.3:c.8011C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_619639.3:p.Arg2671="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040823"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830332997",
      "coordinates": [
        {
          "allele": "A",
          "end": 8287,
          "referenceAllele": "C",
          "start": 8286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "NM_170724.2:c.8011C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_733842.2:p.Arg2671="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042573"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8111,
          "referenceAllele": "C",
          "start": 8110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514679.1:c.8011C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512981.1:p.Arg2671="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081904"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8123,
          "referenceAllele": "C",
          "start": 8122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514680.1:c.8011C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512982.1:p.Arg2671="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081905"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8262,
          "referenceAllele": "C",
          "start": 8261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514681.1:c.8011C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512983.1:p.Arg2671="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081906"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8262,
          "referenceAllele": "C",
          "start": 8261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514682.1:c.8011C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512984.1:p.Arg2671="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081907"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7620,
          "referenceAllele": "C",
          "start": 7619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514683.1:c.7369C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512985.1:p.Arg2457="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081908"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7384,
          "referenceAllele": "C",
          "start": 7383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514684.1:c.7300C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512986.1:p.Arg2434="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081909"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8287,
          "referenceAllele": "C",
          "start": 8286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514685.1:c.8011C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512987.1:p.Arg2671="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081910"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8287,
          "referenceAllele": "C",
          "start": 8286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514686.1:c.8011C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512988.1:p.Arg2671="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081911"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8287,
          "referenceAllele": "C",
          "start": 8286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514687.1:c.8011C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512989.1:p.Arg2671="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081912"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8262,
          "referenceAllele": "C",
          "start": 8261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514688.1:c.8011C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512990.1:p.Arg2671="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081913"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8262,
          "referenceAllele": "C",
          "start": 8261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514689.1:c.8011C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512991.1:p.Arg2671="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081914"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2125,
          "referenceAllele": "C",
          "start": 2124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514690.1:c.2086C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512992.1:p.Arg696="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081915"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2444,
          "referenceAllele": "C",
          "start": 2443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514691.1:c.2086C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512993.1:p.Arg696="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081916"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8631,
          "referenceAllele": "C",
          "start": 8630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514680.3:c.8011C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512982.1:p.Arg2671="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543423"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8253,
          "referenceAllele": "C",
          "start": 8252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514682.3:c.8011C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512984.1:p.Arg2671="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543424"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7611,
          "referenceAllele": "C",
          "start": 7610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514683.3:c.7369C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512985.1:p.Arg2457="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543425"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7397,
          "referenceAllele": "C",
          "start": 7396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514684.3:c.7300C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512986.1:p.Arg2434="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543426"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8287,
          "referenceAllele": "C",
          "start": 8286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514686.2:c.8011C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512988.1:p.Arg2671="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543427"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8253,
          "referenceAllele": "C",
          "start": 8252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514688.2:c.8011C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512990.1:p.Arg2671="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543428"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2173,
          "referenceAllele": "C",
          "start": 2172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514690.3:c.2086C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512992.1:p.Arg696="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543429"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8198,
          "referenceAllele": "C",
          "start": 8197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514691.3:c.2086C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512993.1:p.Arg696="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543430"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8113,
          "referenceAllele": "C",
          "start": 8112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010944.2:c.8011C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866433.1:p.Arg2671="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564897"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8178,
          "referenceAllele": "C",
          "start": 8177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010945.2:c.7936C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866434.1:p.Arg2646="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564898"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8253,
          "referenceAllele": "C",
          "start": 8252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010946.2:c.8011C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866435.1:p.Arg2671="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564899"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7989,
          "referenceAllele": "C",
          "start": 7988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010947.2:c.7747C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866436.1:p.Arg2583="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564900"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8071,
          "referenceAllele": "C",
          "start": 8070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010948.2:c.7300C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866437.1:p.Arg2434="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564901"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7250,
          "referenceAllele": "C",
          "start": 7249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010949.2:c.6151C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866438.1:p.Arg2051="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564902"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8287,
          "referenceAllele": "C",
          "start": 8286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010950.1:c.8011C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866439.1:p.Arg2671="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564903"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8253,
          "referenceAllele": "C",
          "start": 8252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010951.1:c.8011C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866440.1:p.Arg2671="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564904"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8253,
          "referenceAllele": "C",
          "start": 8252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010952.1:c.8011C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866441.1:p.Arg2671="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564905"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8287,
          "referenceAllele": "C",
          "start": 8286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XR_001743469.1:n.8287C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592682"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830257886",
      "coordinates": [
        {
          "allele": "A",
          "end": 8275,
          "referenceAllele": "C",
          "start": 8274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "NM_138694.4:c.8011C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_619639.3:p.Arg2671="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699767",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371117.8:c.8011C>A"
          },
          "RefSeq": {
            "hgvs": "NM_138694.4:c.8011C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360158.3:p.Arg2671="
          },
          "RefSeq": {
            "hgvs": "NP_619639.3:p.Arg2671="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830332997",
      "coordinates": [
        {
          "allele": "A",
          "end": 8275,
          "referenceAllele": "C",
          "start": 8274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "NM_170724.3:c.8011C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_733842.2:p.Arg2671="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700451"
    }
  ],
  "type": "nucleotide"
}