{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA114074",
  "communityStandardTitle": [
    "NM_000398.7(CYB5R3):c.610T>C (p.Cys204Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15280[alleleid]",
        "alleleId": 15280,
        "preferredName": "NM_000398.7(CYB5R3):c.610T>C (p.Cys204Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/241",
        "RCV": [
          "RCV000000265"
        ],
        "variationId": 241
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/22-43023333-A-G",
        "id": "22-43023333-A-G",
        "variant": "22:43023333 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.43023333A>G?assembly=hg19",
        "id": "chr22:g.43023333A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.42627327A>G?assembly=hg38",
        "id": "chr22:g.42627327A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121965011",
        "rs": 121965011
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-43023333-A-G?dataset=gnomad_r2_1",
        "id": "22-43023333-A-G",
        "variant": "22:43023333 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-42627327-A-G?dataset=gnomad_r4",
        "id": "22-42627327-A-G",
        "variant": "22:42627327 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 42627327,
          "referenceAllele": "A",
          "start": 42627326
        }
      ],
      "hgvs": [
        "NC_000022.11:g.42627327A>G",
        "CM000684.2:g.42627327A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 43023333,
          "referenceAllele": "A",
          "start": 43023332
        }
      ],
      "hgvs": [
        "NC_000022.10:g.43023333A>G",
        "CM000684.1:g.43023333A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 41353277,
          "referenceAllele": "A",
          "start": 41353276
        }
      ],
      "hgvs": [
        "NC_000022.9:g.41353277A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 27073,
          "referenceAllele": "T",
          "start": 27072
        }
      ],
      "hgvs": [
        "NG_012194.1:g.27073T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002277"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 819,
          "referenceAllele": "T",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000361740.9:c.742T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354468.5:p.Cys248Arg",
        "hgvsWellDefined": "ENSP00000354468.5:p.Cys248Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824167"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 737,
          "referenceAllele": "T",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000402438.6:c.541T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385679.1:p.Cys181Arg",
        "hgvsWellDefined": "ENSP00000385679.1:p.Cys181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824566"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 648,
          "referenceAllele": "T",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000407332.6:c.628T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384457.2:p.Cys210Arg",
        "hgvsWellDefined": "ENSP00000384457.2:p.Cys210Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824593"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 926,
          "referenceAllele": "T",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000407623.8:c.541T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384834.3:p.Cys181Arg",
        "hgvsWellDefined": "ENSP00000384834.3:p.Cys181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824597"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 147,
          "referenceAllele": "T",
          "start": 146
        }
      ],
      "hgvs": [
        "ENST00000617178.5:c.147T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826494"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2350,
          "referenceAllele": "T",
          "start": 2349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000684963.1:n.2350T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829813"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 756,
          "referenceAllele": "T",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000686523.1:c.*559T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508940.1:n.*559T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830614"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 886,
          "referenceAllele": "T",
          "start": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000687183.1:n.886T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830955"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 774,
          "referenceAllele": "T",
          "start": 773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000687198.1:c.541T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508492.1:p.Cys181Arg",
        "hgvsWellDefined": "ENSP00000508492.1:p.Cys181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830964"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 834,
          "referenceAllele": "T",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000688117.1:c.709T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509015.1:p.Cys237Arg",
        "hgvsWellDefined": "ENSP00000509015.1:p.Cys237Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831449"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 402,
          "endIntronDirection": "-",
          "endIntronOffset": 3438,
          "referenceAllele": "T",
          "start": 402,
          "startIntronDirection": "-",
          "startIntronOffset": 3439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000688244.1:c.334-3439T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510355.1:n.334-3439T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831520"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1232,
          "referenceAllele": "T",
          "start": 1231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000689001.1:n.1232T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831932"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 573,
          "referenceAllele": "T",
          "start": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000689195.1:c.526T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509895.1:p.Cys176Arg",
        "hgvsWellDefined": "ENSP00000509895.1:p.Cys176Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832045"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 777,
          "referenceAllele": "T",
          "start": 776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000689239.1:n.777T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832068"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 772,
          "referenceAllele": "T",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000689795.1:n.772T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832370"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 647,
          "referenceAllele": "T",
          "start": 646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000690835.1:c.610T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509038.1:p.Cys204Arg",
        "hgvsWellDefined": "ENSP00000509038.1:p.Cys204Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832900"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1365,
          "referenceAllele": "T",
          "start": 1364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000690993.1:n.1365T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832982"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 531,
          "referenceAllele": "T",
          "start": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000691295.1:c.*93T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508706.1:n.*93T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833146"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 589,
          "referenceAllele": "T",
          "start": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000691918.1:c.589T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509525.1:p.Cys197Arg",
        "hgvsWellDefined": "ENSP00000509525.1:p.Cys197Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833449"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 871,
          "referenceAllele": "T",
          "start": 870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000692152.1:c.541T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509317.1:p.Cys181Arg",
        "hgvsWellDefined": "ENSP00000509317.1:p.Cys181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833568"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1097,
          "referenceAllele": "T",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000692344.1:n.1097T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833671"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 699,
          "referenceAllele": "T",
          "start": 698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000693363.1:c.652T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510411.1:p.Cys218Arg",
        "hgvsWellDefined": "ENSP00000510411.1:p.Cys218Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834208"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 617,
          "referenceAllele": "T",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000693367.1:c.610T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508815.1:p.Cys204Arg",
        "hgvsWellDefined": "ENSP00000508815.1:p.Cys204Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834211"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 603,
          "referenceAllele": "T",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000693639.1:c.603T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510223.1:n.603T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834345"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 516,
          "referenceAllele": "T",
          "start": 515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000693646.1:c.516T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508449.1:n.516T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834350"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 687,
          "referenceAllele": "T",
          "start": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000352397.10:c.610T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338461.6:p.Cys204Arg",
        "hgvsWellDefined": "ENSP00000338461.6:p.Cys204Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748487",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352397.10:c.610T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000398.7:c.610T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338461.6:p.Cys204Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000389.1:p.Cys204Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 863,
          "referenceAllele": "T",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000352397.9:c.610T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338461.6:p.Cys204Arg",
        "hgvsWellDefined": "ENSP00000338461.6:p.Cys204Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262862"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 709,
          "referenceAllele": "T",
          "start": 708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000361740.8:c.709T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354468.4:p.Cys237Arg",
        "hgvsWellDefined": "ENSP00000354468.4:p.Cys237Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265634"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 725,
          "referenceAllele": "T",
          "start": 724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000402438.5:c.541T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385679.1:p.Cys181Arg",
        "hgvsWellDefined": "ENSP00000385679.1:p.Cys181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279519"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 633,
          "referenceAllele": "T",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000407332.5:c.541T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384457.1:p.Cys181Arg",
        "hgvsWellDefined": "ENSP00000384457.1:p.Cys181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280893"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 926,
          "referenceAllele": "T",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000407623.7:c.541T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384834.3:p.Cys181Arg",
        "hgvsWellDefined": "ENSP00000384834.3:p.Cys181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280965"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2744,
          "referenceAllele": "T",
          "start": 2743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000470741.1:n.2744T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313105"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104179",
      "coordinates": [
        {
          "allele": "C",
          "end": 694,
          "referenceAllele": "T",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "NM_000398.6:c.610T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000389.1:p.Cys204Arg",
        "hgvsWellDefined": "NP_000389.1:p.Cys204Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006459"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825702167",
      "coordinates": [
        {
          "allele": "C",
          "end": 938,
          "referenceAllele": "T",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "NM_001129819.2:c.541T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123291.1:p.Cys181Arg",
        "hgvsWellDefined": "NP_001123291.1:p.Cys181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011866"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915991743",
      "coordinates": [
        {
          "allele": "C",
          "end": 834,
          "referenceAllele": "T",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "NM_001171660.1:c.709T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165131.1:p.Cys237Arg",
        "hgvsWellDefined": "NP_001165131.1:p.Cys237Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826088225",
      "coordinates": [
        {
          "allele": "C",
          "end": 754,
          "referenceAllele": "T",
          "start": 753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "NM_001171661.1:c.541T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165132.1:p.Cys181Arg",
        "hgvsWellDefined": "NP_001165132.1:p.Cys181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829714808",
      "coordinates": [
        {
          "allele": "C",
          "end": 693,
          "referenceAllele": "T",
          "start": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "NM_007326.4:c.541T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_015565.1:p.Cys181Arg",
        "hgvsWellDefined": "NP_015565.1:p.Cys181Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032229"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104179",
      "coordinates": [
        {
          "allele": "C",
          "end": 687,
          "referenceAllele": "T",
          "start": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "NM_000398.7:c.610T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000389.1:p.Cys204Arg",
        "hgvsWellDefined": "NP_000389.1:p.Cys204Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662427",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352397.10:c.610T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000398.7:c.610T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338461.6:p.Cys204Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000389.1:p.Cys204Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915991743",
      "coordinates": [
        {
          "allele": "C",
          "end": 826,
          "referenceAllele": "T",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "NM_001171660.2:c.709T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165131.1:p.Cys237Arg",
        "hgvsWellDefined": "NP_001165131.1:p.Cys237Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713381"
    }
  ],
  "type": "nucleotide"
}