{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA364423053",
  "communityStandardTitle": [
    "NM_138694.4(PKHD1):c.1880T>G (p.Met627Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.51918920A>C?assembly=hg19",
        "id": "chr6:g.51918920A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.52054122A>C?assembly=hg38",
        "id": "chr6:g.52054122A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/786204696",
        "rs": 786204696
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-52054122-A-C?dataset=gnomad_r4",
        "id": "6-52054122-A-C",
        "variant": "6:52054122 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 52054122,
          "referenceAllele": "A",
          "start": 52054121
        }
      ],
      "hgvs": [
        "NC_000006.12:g.52054122A>C",
        "CM000668.2:g.52054122A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 51918920,
          "referenceAllele": "A",
          "start": 51918919
        }
      ],
      "hgvs": [
        "NC_000006.11:g.51918920A>C",
        "CM000668.1:g.51918920A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 52026879,
          "referenceAllele": "A",
          "start": 52026878
        }
      ],
      "hgvs": [
        "NC_000006.10:g.52026879A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 38504,
          "referenceAllele": "T",
          "start": 38503
        }
      ],
      "hgvs": [
        "NG_008753.1:g.38504T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001200"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2144,
          "referenceAllele": "T",
          "start": 2143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "ENST00000371117.8:c.1880T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360158.3:p.Met627Arg",
        "hgvsWellDefined": "ENSP00000360158.3:p.Met627Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750727",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371117.8:c.1880T>G"
          },
          "RefSeq": {
            "hgvs": "NM_138694.4:c.1880T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360158.3:p.Met627Arg"
          },
          "RefSeq": {
            "hgvs": "NP_619639.3:p.Met627Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2141,
          "referenceAllele": "T",
          "start": 2140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "ENST00000340994.4:c.1880T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341097.4:p.Met627Arg",
        "hgvsWellDefined": "ENSP00000341097.4:p.Met627Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261231"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2156,
          "referenceAllele": "T",
          "start": 2155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "ENST00000371117.7:c.1880T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000360158.3:p.Met627Arg",
        "hgvsWellDefined": "ENSP00000360158.3:p.Met627Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268422"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072583039",
      "coordinates": [
        {
          "allele": "G",
          "end": 2156,
          "referenceAllele": "T",
          "start": 2155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "NM_138694.3:c.1880T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_619639.3:p.Met627Arg",
        "hgvsWellDefined": "NP_619639.3:p.Met627Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040823"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2156,
          "referenceAllele": "T",
          "start": 2155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "NM_170724.2:c.1880T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_733842.2:p.Met627Arg",
        "hgvsWellDefined": "NP_733842.2:p.Met627Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042573"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1980,
          "referenceAllele": "T",
          "start": 1979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514679.1:c.1880T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512981.1:p.Met627Arg",
        "hgvsWellDefined": "XP_011512981.1:p.Met627Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081904"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1992,
          "referenceAllele": "T",
          "start": 1991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514680.1:c.1880T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512982.1:p.Met627Arg",
        "hgvsWellDefined": "XP_011512982.1:p.Met627Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081905"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2131,
          "referenceAllele": "T",
          "start": 2130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514681.1:c.1880T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512983.1:p.Met627Arg",
        "hgvsWellDefined": "XP_011512983.1:p.Met627Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081906"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2131,
          "referenceAllele": "T",
          "start": 2130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514682.1:c.1880T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512984.1:p.Met627Arg",
        "hgvsWellDefined": "XP_011512984.1:p.Met627Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081907"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2131,
          "referenceAllele": "T",
          "start": 2130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514683.1:c.1880T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512985.1:p.Met627Arg",
        "hgvsWellDefined": "XP_011512985.1:p.Met627Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081908"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1253,
          "referenceAllele": "T",
          "start": 1252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514684.1:c.1169T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512986.1:p.Met390Arg",
        "hgvsWellDefined": "XP_011512986.1:p.Met390Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081909"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2156,
          "referenceAllele": "T",
          "start": 2155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514685.1:c.1880T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512987.1:p.Met627Arg",
        "hgvsWellDefined": "XP_011512987.1:p.Met627Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081910"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2156,
          "referenceAllele": "T",
          "start": 2155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514686.1:c.1880T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512988.1:p.Met627Arg",
        "hgvsWellDefined": "XP_011512988.1:p.Met627Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081911"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2156,
          "referenceAllele": "T",
          "start": 2155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514687.1:c.1880T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512989.1:p.Met627Arg",
        "hgvsWellDefined": "XP_011512989.1:p.Met627Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081912"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2131,
          "referenceAllele": "T",
          "start": 2130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514688.1:c.1880T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512990.1:p.Met627Arg",
        "hgvsWellDefined": "XP_011512990.1:p.Met627Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081913"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2131,
          "referenceAllele": "T",
          "start": 2130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514689.1:c.1880T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512991.1:p.Met627Arg",
        "hgvsWellDefined": "XP_011512991.1:p.Met627Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081914"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2500,
          "referenceAllele": "T",
          "start": 2499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514680.3:c.1880T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512982.1:p.Met627Arg",
        "hgvsWellDefined": "XP_011512982.1:p.Met627Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543423"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2122,
          "referenceAllele": "T",
          "start": 2121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514682.3:c.1880T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512984.1:p.Met627Arg",
        "hgvsWellDefined": "XP_011512984.1:p.Met627Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543424"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2122,
          "referenceAllele": "T",
          "start": 2121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514683.3:c.1880T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512985.1:p.Met627Arg",
        "hgvsWellDefined": "XP_011512985.1:p.Met627Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543425"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1266,
          "referenceAllele": "T",
          "start": 1265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514684.3:c.1169T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512986.1:p.Met390Arg",
        "hgvsWellDefined": "XP_011512986.1:p.Met390Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543426"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2156,
          "referenceAllele": "T",
          "start": 2155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514686.2:c.1880T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512988.1:p.Met627Arg",
        "hgvsWellDefined": "XP_011512988.1:p.Met627Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543427"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2122,
          "referenceAllele": "T",
          "start": 2121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_011514688.2:c.1880T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512990.1:p.Met627Arg",
        "hgvsWellDefined": "XP_011512990.1:p.Met627Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543428"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1982,
          "referenceAllele": "T",
          "start": 1981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010944.2:c.1880T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866433.1:p.Met627Arg",
        "hgvsWellDefined": "XP_016866433.1:p.Met627Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564897"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2047,
          "referenceAllele": "T",
          "start": 2046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010945.2:c.1805T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866434.1:p.Met602Arg",
        "hgvsWellDefined": "XP_016866434.1:p.Met602Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564898"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2122,
          "referenceAllele": "T",
          "start": 2121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010946.2:c.1880T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866435.1:p.Met627Arg",
        "hgvsWellDefined": "XP_016866435.1:p.Met627Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564899"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2122,
          "referenceAllele": "T",
          "start": 2121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010947.2:c.1880T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866436.1:p.Met627Arg",
        "hgvsWellDefined": "XP_016866436.1:p.Met627Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564900"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1940,
          "referenceAllele": "T",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010948.2:c.1169T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866437.1:p.Met390Arg",
        "hgvsWellDefined": "XP_016866437.1:p.Met390Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564901"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1119,
          "referenceAllele": "T",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010949.2:c.20T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866438.1:p.Met7Arg",
        "hgvsWellDefined": "XP_016866438.1:p.Met7Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564902"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2156,
          "referenceAllele": "T",
          "start": 2155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010950.1:c.1880T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866439.1:p.Met627Arg",
        "hgvsWellDefined": "XP_016866439.1:p.Met627Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564903"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2122,
          "referenceAllele": "T",
          "start": 2121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010951.1:c.1880T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866440.1:p.Met627Arg",
        "hgvsWellDefined": "XP_016866440.1:p.Met627Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564904"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2122,
          "referenceAllele": "T",
          "start": 2121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XM_017010952.1:c.1880T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866441.1:p.Met627Arg",
        "hgvsWellDefined": "XP_016866441.1:p.Met627Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564905"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2156,
          "referenceAllele": "T",
          "start": 2155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "XR_001743469.1:n.2156T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592682"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072583039",
      "coordinates": [
        {
          "allele": "G",
          "end": 2144,
          "referenceAllele": "T",
          "start": 2143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "NM_138694.4:c.1880T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_619639.3:p.Met627Arg",
        "hgvsWellDefined": "NP_619639.3:p.Met627Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699767",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371117.8:c.1880T>G"
          },
          "RefSeq": {
            "hgvs": "NM_138694.4:c.1880T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360158.3:p.Met627Arg"
          },
          "RefSeq": {
            "hgvs": "NP_619639.3:p.Met627Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2144,
          "referenceAllele": "T",
          "start": 2143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009016",
      "geneNCBI_id": 5314,
      "geneSymbol": "PKHD1",
      "hgvs": [
        "NM_170724.3:c.1880T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_733842.2:p.Met627Arg",
        "hgvsWellDefined": "NP_733842.2:p.Met627Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700451"
    }
  ],
  "type": "nucleotide"
}