{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10269654",
  "communityStandardTitle": [
    "NM_000398.7(CYB5R3):c.574C>T (p.Arg192Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1314474[alleleid]",
        "alleleId": 1314474,
        "preferredName": "NM_000398.7(CYB5R3):c.574C>T (p.Arg192Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1324199",
        "RCV": [
          "RCV001780904",
          "RCV003394253",
          "RCV003546714"
        ],
        "variationId": 1324199
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/22-43023369-G-A",
        "id": "22-43023369-G-A",
        "variant": "22:43023369 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.43023369G>A?assembly=hg19",
        "id": "chr22:g.43023369G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.42627363G>A?assembly=hg38",
        "id": "chr22:g.42627363G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/543277216",
        "rs": 543277216
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-43023369-G-A?dataset=gnomad_r2_1",
        "id": "22-43023369-G-A",
        "variant": "22:43023369 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-42627363-G-A?dataset=gnomad_r3",
        "id": "22-42627363-G-A",
        "variant": "22:42627363 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-42627363-G-A?dataset=gnomad_r4",
        "id": "22-42627363-G-A",
        "variant": "22:42627363 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 42627363,
          "referenceAllele": "G",
          "start": 42627362
        }
      ],
      "hgvs": [
        "NC_000022.11:g.42627363G>A",
        "CM000684.2:g.42627363G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 43023369,
          "referenceAllele": "G",
          "start": 43023368
        }
      ],
      "hgvs": [
        "NC_000022.10:g.43023369G>A",
        "CM000684.1:g.43023369G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 41353313,
          "referenceAllele": "G",
          "start": 41353312
        }
      ],
      "hgvs": [
        "NC_000022.9:g.41353313G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 27037,
          "referenceAllele": "C",
          "start": 27036
        }
      ],
      "hgvs": [
        "NG_012194.1:g.27037C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002277"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 783,
          "referenceAllele": "C",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000361740.9:c.706C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354468.5:p.Arg236Cys",
        "hgvsWellDefined": "ENSP00000354468.5:p.Arg236Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824167"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 701,
          "referenceAllele": "C",
          "start": 700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000402438.6:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385679.1:p.Arg169Cys",
        "hgvsWellDefined": "ENSP00000385679.1:p.Arg169Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824566"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 612,
          "referenceAllele": "C",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000407332.6:c.592C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384457.2:p.Arg198Cys",
        "hgvsWellDefined": "ENSP00000384457.2:p.Arg198Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824593"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 890,
          "referenceAllele": "C",
          "start": 889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000407623.8:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384834.3:p.Arg169Cys",
        "hgvsWellDefined": "ENSP00000384834.3:p.Arg169Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824597"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 111,
          "referenceAllele": "C",
          "start": 110
        }
      ],
      "hgvs": [
        "ENST00000617178.5:c.111C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826494"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2314,
          "referenceAllele": "C",
          "start": 2313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000684963.1:n.2314C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829813"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 720,
          "referenceAllele": "C",
          "start": 719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000686523.1:c.*523C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508940.1:n.*523C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830614"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 850,
          "referenceAllele": "C",
          "start": 849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000687183.1:n.850C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830955"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 738,
          "referenceAllele": "C",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000687198.1:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508492.1:p.Arg169Cys",
        "hgvsWellDefined": "ENSP00000508492.1:p.Arg169Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830964"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 798,
          "referenceAllele": "C",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000688117.1:c.673C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509015.1:p.Arg225Cys",
        "hgvsWellDefined": "ENSP00000509015.1:p.Arg225Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831449"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 402,
          "endIntronDirection": "-",
          "endIntronOffset": 3474,
          "referenceAllele": "C",
          "start": 402,
          "startIntronDirection": "-",
          "startIntronOffset": 3475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000688244.1:c.334-3475C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510355.1:n.334-3475C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831520"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1196,
          "referenceAllele": "C",
          "start": 1195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000689001.1:n.1196C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831932"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 537,
          "referenceAllele": "C",
          "start": 536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000689195.1:c.490C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509895.1:p.Arg164Cys",
        "hgvsWellDefined": "ENSP00000509895.1:p.Arg164Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832045"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 741,
          "referenceAllele": "C",
          "start": 740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000689239.1:n.741C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832068"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 736,
          "referenceAllele": "C",
          "start": 735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000689795.1:n.736C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832370"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 611,
          "referenceAllele": "C",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000690835.1:c.574C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509038.1:p.Arg192Cys",
        "hgvsWellDefined": "ENSP00000509038.1:p.Arg192Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832900"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1329,
          "referenceAllele": "C",
          "start": 1328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000690993.1:n.1329C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 495,
          "referenceAllele": "C",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000691295.1:c.*57C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508706.1:n.*57C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833146"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 553,
          "referenceAllele": "C",
          "start": 552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000691918.1:c.553C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509525.1:p.Arg185Cys",
        "hgvsWellDefined": "ENSP00000509525.1:p.Arg185Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833449"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 835,
          "referenceAllele": "C",
          "start": 834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000692152.1:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509317.1:p.Arg169Cys",
        "hgvsWellDefined": "ENSP00000509317.1:p.Arg169Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833568"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1061,
          "referenceAllele": "C",
          "start": 1060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000692344.1:n.1061C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833671"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 663,
          "referenceAllele": "C",
          "start": 662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000693363.1:c.616C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510411.1:p.Arg206Cys",
        "hgvsWellDefined": "ENSP00000510411.1:p.Arg206Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834208"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 581,
          "referenceAllele": "C",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000693367.1:c.574C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508815.1:p.Arg192Cys",
        "hgvsWellDefined": "ENSP00000508815.1:p.Arg192Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834211"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 567,
          "referenceAllele": "C",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000693639.1:c.567C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510223.1:n.567C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834345"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 480,
          "referenceAllele": "C",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000693646.1:c.480C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508449.1:n.480C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834350"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 651,
          "referenceAllele": "C",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000352397.10:c.574C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338461.6:p.Arg192Cys",
        "hgvsWellDefined": "ENSP00000338461.6:p.Arg192Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748487",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352397.10:c.574C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000398.7:c.574C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338461.6:p.Arg192Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000389.1:p.Arg192Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 827,
          "referenceAllele": "C",
          "start": 826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000352397.9:c.574C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338461.6:p.Arg192Cys",
        "hgvsWellDefined": "ENSP00000338461.6:p.Arg192Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262862"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 673,
          "referenceAllele": "C",
          "start": 672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000361740.8:c.673C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354468.4:p.Arg225Cys",
        "hgvsWellDefined": "ENSP00000354468.4:p.Arg225Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265634"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 689,
          "referenceAllele": "C",
          "start": 688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000402438.5:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385679.1:p.Arg169Cys",
        "hgvsWellDefined": "ENSP00000385679.1:p.Arg169Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279519"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 597,
          "referenceAllele": "C",
          "start": 596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000407332.5:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384457.1:p.Arg169Cys",
        "hgvsWellDefined": "ENSP00000384457.1:p.Arg169Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 890,
          "referenceAllele": "C",
          "start": 889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000407623.7:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384834.3:p.Arg169Cys",
        "hgvsWellDefined": "ENSP00000384834.3:p.Arg169Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280965"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2708,
          "referenceAllele": "C",
          "start": 2707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000470741.1:n.2708C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313105"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825158515",
      "coordinates": [
        {
          "allele": "T",
          "end": 658,
          "referenceAllele": "C",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "NM_000398.6:c.574C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000389.1:p.Arg192Cys",
        "hgvsWellDefined": "NP_000389.1:p.Arg192Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006459"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825702163",
      "coordinates": [
        {
          "allele": "T",
          "end": 902,
          "referenceAllele": "C",
          "start": 901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "NM_001129819.2:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123291.1:p.Arg169Cys",
        "hgvsWellDefined": "NP_001123291.1:p.Arg169Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011866"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573066849",
      "coordinates": [
        {
          "allele": "T",
          "end": 798,
          "referenceAllele": "C",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "NM_001171660.1:c.673C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165131.1:p.Arg225Cys",
        "hgvsWellDefined": "NP_001165131.1:p.Arg225Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826088217",
      "coordinates": [
        {
          "allele": "T",
          "end": 718,
          "referenceAllele": "C",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "NM_001171661.1:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165132.1:p.Arg169Cys",
        "hgvsWellDefined": "NP_001165132.1:p.Arg169Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829714803",
      "coordinates": [
        {
          "allele": "T",
          "end": 657,
          "referenceAllele": "C",
          "start": 656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "NM_007326.4:c.505C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_015565.1:p.Arg169Cys",
        "hgvsWellDefined": "NP_015565.1:p.Arg169Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032229"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825158515",
      "coordinates": [
        {
          "allele": "T",
          "end": 651,
          "referenceAllele": "C",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "NM_000398.7:c.574C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000389.1:p.Arg192Cys",
        "hgvsWellDefined": "NP_000389.1:p.Arg192Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662427",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352397.10:c.574C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000398.7:c.574C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338461.6:p.Arg192Cys"
          },
          "RefSeq": {
            "hgvs": "NP_000389.1:p.Arg192Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573066849",
      "coordinates": [
        {
          "allele": "T",
          "end": 790,
          "referenceAllele": "C",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "NM_001171660.2:c.673C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165131.1:p.Arg225Cys",
        "hgvsWellDefined": "NP_001165131.1:p.Arg225Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713381"
    }
  ],
  "type": "nucleotide"
}