{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2406839328",
  "communityStandardTitle": [
    "NM_000398.7(CYB5R3):c.173G= (p.Arg58=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121965007",
        "rs": 121965007
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 42631431,
          "referenceAllele": "C",
          "start": 42631430
        }
      ],
      "hgvs": [
        "NC_000022.11:g.42631431C=",
        "CM000684.2:g.42631431C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 43027437,
          "referenceAllele": "C",
          "start": 43027436
        }
      ],
      "hgvs": [
        "NC_000022.10:g.43027437C=",
        "CM000684.1:g.43027437C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 41357381,
          "referenceAllele": "C",
          "start": 41357380
        }
      ],
      "hgvs": [
        "NC_000022.9:g.41357381C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22969,
          "referenceAllele": "G",
          "start": 22968
        }
      ],
      "hgvs": [
        "NG_012194.1:g.22969G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002277"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 250,
          "referenceAllele": "G",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000361740.9:c.173G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354468.5:p.Arg58="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824167"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 300,
          "referenceAllele": "G",
          "start": 299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000402438.6:c.104G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385679.1:p.Arg35="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824566"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 211,
          "referenceAllele": "G",
          "start": 210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000407332.6:c.191G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384457.2:p.Arg64="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824593"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 489,
          "referenceAllele": "G",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000407623.8:c.104G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384834.3:p.Arg35="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824597"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 207,
          "referenceAllele": "G",
          "start": 206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000438270.2:c.104G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403439.2:p.Arg35="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824907"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 240,
          "referenceAllele": "G",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000466276.2:n.240G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825168"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 226,
          "referenceAllele": "G",
          "start": 225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000686129.1:c.104G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508623.1:p.Arg35="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830413"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 319,
          "referenceAllele": "G",
          "start": 318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000686523.1:c.*122G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508940.1:n.*122G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830614"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 234,
          "referenceAllele": "G",
          "start": 233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000687183.1:n.234G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830955"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 337,
          "referenceAllele": "G",
          "start": 336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000687198.1:c.104G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508492.1:p.Arg35="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830964"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 397,
          "referenceAllele": "G",
          "start": 396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000688117.1:c.272G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509015.1:p.Arg91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831449"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 242,
          "referenceAllele": "G",
          "start": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000688244.1:c.173G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510355.1:p.Arg58="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831520"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 191,
          "referenceAllele": "G",
          "start": 190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000689001.1:n.191G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831932"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 220,
          "referenceAllele": "G",
          "start": 219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000689195.1:c.173G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509895.1:p.Arg58="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832045"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 340,
          "referenceAllele": "G",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000689239.1:n.340G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832068"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 335,
          "referenceAllele": "G",
          "start": 334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000689795.1:n.335G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832370"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 210,
          "referenceAllele": "G",
          "start": 209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000690835.1:c.173G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509038.1:p.Arg58="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832900"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 250,
          "referenceAllele": "G",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000690993.1:n.250G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832982"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 224,
          "referenceAllele": "G",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000691295.1:c.173G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508706.1:p.Arg58="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833146"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 152,
          "referenceAllele": "G",
          "start": 151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000691918.1:c.152G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509525.1:p.Arg51="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833449"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 434,
          "referenceAllele": "G",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000692152.1:c.104G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509317.1:p.Arg35="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833568"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 197,
          "referenceAllele": "G",
          "start": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000692344.1:n.197G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833671"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 146,
          "endIntronDirection": "-",
          "endIntronOffset": 442,
          "referenceAllele": "G",
          "start": 146,
          "startIntronDirection": "-",
          "startIntronOffset": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000693157.1:c.147-443G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510610.1:n.147-443G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834089"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 220,
          "referenceAllele": "G",
          "start": 219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000693363.1:c.173G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510411.1:p.Arg58="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834208"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 180,
          "referenceAllele": "G",
          "start": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000693367.1:c.173G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508815.1:p.Arg58="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834211"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 166,
          "referenceAllele": "G",
          "start": 165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000693639.1:c.166G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510223.1:p.Gly56="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834345"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 132,
          "endIntronDirection": "-",
          "endIntronOffset": 442,
          "referenceAllele": "G",
          "start": 132,
          "startIntronDirection": "-",
          "startIntronOffset": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000693646.1:c.133-443G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508449.1:n.133-443G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834350"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 401,
          "referenceAllele": "G",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000693716.1:n.401G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834391"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 250,
          "referenceAllele": "G",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000352397.10:c.173G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338461.6:p.Arg58="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748487",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352397.10:c.173G="
          },
          "RefSeq": {
            "hgvs": "NM_000398.7:c.173G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338461.6:p.Arg58="
          },
          "RefSeq": {
            "hgvs": "NP_000389.1:p.Arg58="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 426,
          "referenceAllele": "G",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000352397.9:c.173G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338461.6:p.Arg58="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262862"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 272,
          "referenceAllele": "G",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000361740.8:c.272G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354468.4:p.Arg91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265634"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 288,
          "referenceAllele": "G",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000402438.5:c.104G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385679.1:p.Arg35="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279519"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 196,
          "referenceAllele": "G",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000407332.5:c.104G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384457.1:p.Arg35="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280893"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 489,
          "referenceAllele": "G",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000407623.7:c.104G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384834.3:p.Arg35="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280965"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 337,
          "referenceAllele": "G",
          "start": 336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000438270.1:c.104G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403439.1:p.Arg35="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294850"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 191,
          "referenceAllele": "G",
          "start": 190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000466276.1:n.191G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309689"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1918,
          "referenceAllele": "G",
          "start": 1917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000470741.1:n.1918G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313105"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088581872",
      "coordinates": [
        {
          "allele": "G",
          "end": 257,
          "referenceAllele": "G",
          "start": 256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "NM_000398.6:c.173G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000389.1:p.Arg58="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006459"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 501,
          "referenceAllele": "G",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "NM_001129819.2:c.104G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001123291.1:p.Arg35="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011866"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 397,
          "referenceAllele": "G",
          "start": 396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "NM_001171660.1:c.272G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001165131.1:p.Arg91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015349"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 317,
          "referenceAllele": "G",
          "start": 316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "NM_001171661.1:c.104G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001165132.1:p.Arg35="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015350"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 256,
          "referenceAllele": "G",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "NM_007326.4:c.104G="
      ],
      "proteinEffect": {
        "hgvs": "NP_015565.1:p.Arg35="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032229"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088581872",
      "coordinates": [
        {
          "allele": "G",
          "end": 250,
          "referenceAllele": "G",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "NM_000398.7:c.173G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000389.1:p.Arg58="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662427",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352397.10:c.173G="
          },
          "RefSeq": {
            "hgvs": "NM_000398.7:c.173G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338461.6:p.Arg58="
          },
          "RefSeq": {
            "hgvs": "NP_000389.1:p.Arg58="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 389,
          "referenceAllele": "G",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "NM_001171660.2:c.272G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001165131.1:p.Arg91="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713381"
    }
  ],
  "type": "nucleotide"
}