{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA270085",
  "communityStandardTitle": [
    "NM_004183.4(BEST1):c.763C>T (p.Arg255Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=152845[alleleid]",
        "alleleId": 152845,
        "preferredName": "NM_004183.4(BEST1):c.763C>T (p.Arg255Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/143127",
        "RCV": [
          "RCV000132651",
          "RCV001781480",
          "RCV002478405",
          "RCV003888561"
        ],
        "variationId": 143127
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-61725666-C-T",
        "id": "11-61725666-C-T",
        "variant": "11:61725666 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.61725666C>T?assembly=hg19",
        "id": "chr11:g.61725666C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.61958194C>T?assembly=hg38",
        "id": "chr11:g.61958194C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/372989281",
        "rs": 372989281
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-61725666-C-T?dataset=gnomad_r2_1",
        "id": "11-61725666-C-T",
        "variant": "11:61725666 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-61958194-C-T?dataset=gnomad_r3",
        "id": "11-61958194-C-T",
        "variant": "11:61958194 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-61958194-C-T?dataset=gnomad_r4",
        "id": "11-61958194-C-T",
        "variant": "11:61958194 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 61958194,
          "referenceAllele": "C",
          "start": 61958193
        }
      ],
      "hgvs": [
        "NC_000011.10:g.61958194C>T",
        "CM000673.2:g.61958194C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 61725666,
          "referenceAllele": "C",
          "start": 61725665
        }
      ],
      "hgvs": [
        "NC_000011.9:g.61725666C>T",
        "CM000673.1:g.61725666C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 61482242,
          "referenceAllele": "C",
          "start": 61482241
        }
      ],
      "hgvs": [
        "NC_000011.8:g.61482242C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13311,
          "referenceAllele": "C",
          "start": 13310
        }
      ],
      "hgvs": [
        "NG_009033.1:g.13311C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001393"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 876,
          "referenceAllele": "C",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "ENST00000378043.9:c.763C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367282.4:p.Arg255Trp",
        "hgvsWellDefined": "ENSP00000367282.4:p.Arg255Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378043.9:c.763C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004183.4:c.763C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367282.4:p.Arg255Trp"
          },
          "RefSeq": {
            "hgvs": "NP_004174.1:p.Arg255Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1406,
          "referenceAllele": "C",
          "start": 1405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "ENST00000378043.8:c.763C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367282.4:p.Arg255Trp",
        "hgvsWellDefined": "ENSP00000367282.4:p.Arg255Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271859"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 669,
          "referenceAllele": "C",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "ENST00000449131.6:c.583C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399709.2:p.Arg195Trp",
        "hgvsWellDefined": "ENSP00000399709.2:p.Arg195Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300055"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1195,
          "referenceAllele": "C",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "ENST00000524877.5:n.1195C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350974"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 867,
          "referenceAllele": "C",
          "start": 866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "ENST00000524926.5:c.763C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432681.1:p.Arg255Trp",
        "hgvsWellDefined": "ENSP00000432681.1:p.Arg255Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 606,
          "referenceAllele": "C",
          "start": 605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "ENST00000526988.1:c.445C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433195.1:p.Arg149Trp",
        "hgvsWellDefined": "ENSP00000433195.1:p.Arg149Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 686,
          "referenceAllele": "C",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "ENST00000529265.5:n.686C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS354674"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 739,
          "endIntronDirection": "+",
          "endIntronOffset": 2243,
          "referenceAllele": "C",
          "start": 739,
          "startIntronDirection": "+",
          "startIntronOffset": 2242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "ENST00000534553.5:c.163+2243C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431189.1:n.163+2243C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359147"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825831641",
      "coordinates": [
        {
          "allele": "T",
          "end": 1155,
          "referenceAllele": "C",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "NM_001139443.1:c.583C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001132915.1:p.Arg195Trp",
        "hgvsWellDefined": "NP_001132915.1:p.Arg195Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012752"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826849813",
      "coordinates": [
        {
          "allele": "T",
          "end": 1155,
          "referenceAllele": "C",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "NM_001300786.1:c.583C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287715.1:p.Arg195Trp",
        "hgvsWellDefined": "NP_001287715.1:p.Arg195Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024846"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826850224",
      "coordinates": [
        {
          "allele": "T",
          "end": 1155,
          "referenceAllele": "C",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "NM_001300787.1:c.583C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287716.1:p.Arg195Trp",
        "hgvsWellDefined": "NP_001287716.1:p.Arg195Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024847"
    },
    {
      "@id": "http://reg.genome.network/allele/PA270086",
      "coordinates": [
        {
          "allele": "T",
          "end": 1343,
          "referenceAllele": "C",
          "start": 1342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "NM_004183.3:c.763C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004174.1:p.Arg255Trp",
        "hgvsWellDefined": "NP_004174.1:p.Arg255Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1421,
          "referenceAllele": "C",
          "start": 1420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "XM_005274210.2:c.763C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274267.1:p.Arg255Trp",
        "hgvsWellDefined": "XP_005274267.1:p.Arg255Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067866"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 672,
          "referenceAllele": "C",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "XM_005274215.2:c.445C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274272.1:p.Arg149Trp",
        "hgvsWellDefined": "XP_005274272.1:p.Arg149Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067867"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1233,
          "referenceAllele": "C",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "XM_005274216.2:c.583C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274273.1:p.Arg195Trp",
        "hgvsWellDefined": "XP_005274273.1:p.Arg195Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067868"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1278,
          "referenceAllele": "C",
          "start": 1277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "XM_005274218.3:c.445C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274275.1:p.Arg149Trp",
        "hgvsWellDefined": "XP_005274275.1:p.Arg149Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067869"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1421,
          "referenceAllele": "C",
          "start": 1420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "XM_005274219.2:c.763C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274276.1:p.Arg255Trp",
        "hgvsWellDefined": "XP_005274276.1:p.Arg255Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067870"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1372,
          "endIntronDirection": "+",
          "endIntronOffset": 730,
          "referenceAllele": "C",
          "start": 1372,
          "startIntronDirection": "+",
          "startIntronOffset": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "XM_005274221.2:c.714+730C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274278.1:n.714+730C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067871"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 900,
          "referenceAllele": "C",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "XM_011545229.1:c.763C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543531.1:p.Arg255Trp",
        "hgvsWellDefined": "XP_011543531.1:p.Arg255Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112133"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 707,
          "referenceAllele": "C",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "XM_011545230.1:c.670C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543532.1:p.Arg224Trp",
        "hgvsWellDefined": "XP_011543532.1:p.Arg224Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112134"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1278,
          "referenceAllele": "C",
          "start": 1277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "XM_011545231.1:c.445C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543533.1:p.Arg149Trp",
        "hgvsWellDefined": "XP_011543533.1:p.Arg149Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112135"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1421,
          "referenceAllele": "C",
          "start": 1420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "XM_011545232.1:c.763C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543534.1:p.Arg255Trp",
        "hgvsWellDefined": "XP_011543534.1:p.Arg255Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112136"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828098398",
      "coordinates": [
        {
          "allele": "T",
          "end": 1108,
          "referenceAllele": "C",
          "start": 1107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "NM_001363591.1:c.445C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350520.1:p.Arg149Trp",
        "hgvsWellDefined": "NP_001350520.1:p.Arg149Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523411"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828099033",
      "coordinates": [
        {
          "allele": "T",
          "end": 1406,
          "referenceAllele": "C",
          "start": 1405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "NM_001363592.1:c.763C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350521.1:p.Arg255Trp",
        "hgvsWellDefined": "NP_001350521.1:p.Arg255Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1108,
          "referenceAllele": "C",
          "start": 1107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "NM_001363593.1:c.-413C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350522.1:n.-413C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1343,
          "referenceAllele": "C",
          "start": 1342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "NR_134580.1:n.1343C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527684"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1453,
          "referenceAllele": "C",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "XM_005274210.4:c.763C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274267.1:p.Arg255Trp",
        "hgvsWellDefined": "XP_005274267.1:p.Arg255Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537573"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1108,
          "referenceAllele": "C",
          "start": 1107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "XM_005274215.4:c.445C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274272.1:p.Arg149Trp",
        "hgvsWellDefined": "XP_005274272.1:p.Arg149Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537574"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1261,
          "referenceAllele": "C",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "XM_005274216.4:c.583C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274273.1:p.Arg195Trp",
        "hgvsWellDefined": "XP_005274273.1:p.Arg195Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537575"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1453,
          "referenceAllele": "C",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "XM_005274219.4:c.763C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274276.1:p.Arg255Trp",
        "hgvsWellDefined": "XP_005274276.1:p.Arg255Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537576"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1404,
          "endIntronDirection": "+",
          "endIntronOffset": 730,
          "referenceAllele": "C",
          "start": 1404,
          "startIntronDirection": "+",
          "startIntronOffset": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "XM_005274221.4:c.714+730C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274278.1:n.714+730C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537577"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 893,
          "referenceAllele": "C",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "XM_011545229.3:c.763C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543531.1:p.Arg255Trp",
        "hgvsWellDefined": "XP_011543531.1:p.Arg255Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555999"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 697,
          "referenceAllele": "C",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "XM_011545230.3:c.670C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543532.1:p.Arg224Trp",
        "hgvsWellDefined": "XP_011543532.1:p.Arg224Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556000"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1108,
          "referenceAllele": "C",
          "start": 1107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "XM_017018230.2:c.445C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873719.1:p.Arg149Trp",
        "hgvsWellDefined": "XP_016873719.1:p.Arg149Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570220"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1261,
          "referenceAllele": "C",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "XR_001747952.2:n.1261C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596028"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1453,
          "referenceAllele": "C",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "XR_001747953.2:n.1453C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596029"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1404,
          "endIntronDirection": "+",
          "endIntronOffset": 730,
          "referenceAllele": "C",
          "start": 1404,
          "startIntronDirection": "+",
          "startIntronOffset": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "XR_001747954.2:n.1404+730C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596030"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 535,
          "referenceAllele": "G",
          "start": 534
        }
      ],
      "hgvs": [
        "XR_001748245.1:n.535G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596289"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 505,
          "endIntronDirection": "+",
          "endIntronOffset": 30,
          "referenceAllele": "G",
          "start": 505,
          "startIntronDirection": "+",
          "startIntronOffset": 29
        }
      ],
      "hgvs": [
        "XR_002957249.1:n.505+30G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603385"
    },
    {
      "@id": "http://reg.genome.network/allele/PA270086",
      "coordinates": [
        {
          "allele": "T",
          "end": 876,
          "referenceAllele": "C",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "NM_004183.4:c.763C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004174.1:p.Arg255Trp",
        "hgvsWellDefined": "NP_004174.1:p.Arg255Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666351",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378043.9:c.763C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004183.4:c.763C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367282.4:p.Arg255Trp"
          },
          "RefSeq": {
            "hgvs": "NP_004174.1:p.Arg255Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825831641",
      "coordinates": [
        {
          "allele": "T",
          "end": 688,
          "referenceAllele": "C",
          "start": 687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "NM_001139443.2:c.583C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001132915.1:p.Arg195Trp",
        "hgvsWellDefined": "NP_001132915.1:p.Arg195Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677465"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826849813",
      "coordinates": [
        {
          "allele": "T",
          "end": 688,
          "referenceAllele": "C",
          "start": 687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "NM_001300786.2:c.583C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287715.1:p.Arg195Trp",
        "hgvsWellDefined": "NP_001287715.1:p.Arg195Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683169"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826850224",
      "coordinates": [
        {
          "allele": "T",
          "end": 688,
          "referenceAllele": "C",
          "start": 687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "NM_001300787.2:c.583C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287716.1:p.Arg195Trp",
        "hgvsWellDefined": "NP_001287716.1:p.Arg195Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683170"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828098398",
      "coordinates": [
        {
          "allele": "T",
          "end": 669,
          "referenceAllele": "C",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "NM_001363591.2:c.445C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350520.1:p.Arg149Trp",
        "hgvsWellDefined": "NP_001350520.1:p.Arg149Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690703"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 669,
          "referenceAllele": "C",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "NM_001363593.2:c.-413C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350522.1:n.-413C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690704"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 876,
          "referenceAllele": "C",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012703",
      "geneNCBI_id": 7439,
      "geneSymbol": "BEST1",
      "hgvs": [
        "NR_134580.2:n.876C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703493"
    }
  ],
  "type": "nucleotide"
}