{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10269609",
  "communityStandardTitle": [
    "NM_000398.7(CYB5R3):c.708G>A (p.Trp236Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1686888[alleleid]",
        "alleleId": 1686888,
        "preferredName": "NM_000398.7(CYB5R3):c.708G>A (p.Trp236Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1694454",
        "RCV": [
          "RCV002262175"
        ],
        "variationId": 1694454
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/22-43019820-C-T",
        "id": "22-43019820-C-T",
        "variant": "22:43019820 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.43019820C>T?assembly=hg19",
        "id": "chr22:g.43019820C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.42623814C>T?assembly=hg38",
        "id": "chr22:g.42623814C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/763259379",
        "rs": 763259379
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-43019820-C-T?dataset=gnomad_r2_1",
        "id": "22-43019820-C-T",
        "variant": "22:43019820 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-42623814-C-T?dataset=gnomad_r3",
        "id": "22-42623814-C-T",
        "variant": "22:42623814 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-42623814-C-T?dataset=gnomad_r4",
        "id": "22-42623814-C-T",
        "variant": "22:42623814 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 42623814,
          "referenceAllele": "C",
          "start": 42623813
        }
      ],
      "hgvs": [
        "NC_000022.11:g.42623814C>T",
        "CM000684.2:g.42623814C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 43019820,
          "referenceAllele": "C",
          "start": 43019819
        }
      ],
      "hgvs": [
        "NC_000022.10:g.43019820C>T",
        "CM000684.1:g.43019820C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 41349764,
          "referenceAllele": "C",
          "start": 41349763
        }
      ],
      "hgvs": [
        "NC_000022.9:g.41349764C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 30586,
          "referenceAllele": "G",
          "start": 30585
        }
      ],
      "hgvs": [
        "NG_012194.1:g.30586G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002277"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 917,
          "referenceAllele": "G",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000361740.9:c.840G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354468.5:p.Trp280Ter",
        "hgvsWellDefined": "ENSP00000354468.5:p.Trp280_Phe345delinsTyrThrLeuAspArgAlaProGluAlaTrpAspTyrGlyGlnGlyPheValAsnGluGluMetIleArgAspHisLeuProProProGluGluGluProLeuValLeuMetCysGlyProProProMetIleGlnTyrAlaCysLeuProAsnLeuAspHisValGlyHisProThrGluArgCysPheValPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824167"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 835,
          "referenceAllele": "G",
          "start": 834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000402438.6:c.639G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385679.1:p.Trp213Ter",
        "hgvsWellDefined": "ENSP00000385679.1:p.Trp213_Phe278delinsTyrThrLeuAspArgAlaProGluAlaTrpAspTyrGlyGlnGlyPheValAsnGluGluMetIleArgAspHisLeuProProProGluGluGluProLeuValLeuMetCysGlyProProProMetIleGlnTyrAlaCysLeuProAsnLeuAspHisValGlyHisProThrGluArgCysPheValPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824566"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 746,
          "referenceAllele": "G",
          "start": 745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000407332.6:c.726G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384457.2:p.Trp242Ter",
        "hgvsWellDefined": "ENSP00000384457.2:p.Trp242_Phe307delinsTyrThrLeuAspArgAlaProGluAlaTrpAspTyrGlyGlnGlyPheValAsnGluGluMetIleArgAspHisLeuProProProGluGluGluProLeuValLeuMetCysGlyProProProMetIleGlnTyrAlaCysLeuProAsnLeuAspHisValGlyHisProThrGluArgCysPheValPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824593"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1024,
          "referenceAllele": "G",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000407623.8:c.639G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384834.3:p.Trp213Ter",
        "hgvsWellDefined": "ENSP00000384834.3:p.Trp213_Phe278delinsTyrThrLeuAspArgAlaProGluAlaTrpAspTyrGlyGlnGlyPheValAsnGluGluMetIleArgAspHisLeuProProProGluGluGluProLeuValLeuMetCysGlyProProProMetIleGlnTyrAlaCysLeuProAsnLeuAspHisValGlyHisProThrGluArgCysPheValPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824597"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 245,
          "referenceAllele": "G",
          "start": 244
        }
      ],
      "hgvs": [
        "ENST00000617178.5:c.245G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826494"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2448,
          "referenceAllele": "G",
          "start": 2447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000684963.1:n.2448G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829813"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 300,
          "referenceAllele": "G",
          "start": 299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000685184.1:n.300G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829928"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 854,
          "referenceAllele": "G",
          "start": 853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000686523.1:c.*657G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508940.1:n.*657G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830614"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 984,
          "referenceAllele": "G",
          "start": 983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000687183.1:n.984G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830955"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 872,
          "referenceAllele": "G",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000687198.1:c.639G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508492.1:p.Trp213Ter",
        "hgvsWellDefined": "ENSP00000508492.1:p.Trp213_Phe278delinsTyrThrLeuAspArgAlaProGluAlaTrpAspTyrGlyGlnGlyPheValAsnGluGluMetIleArgAspHisLeuProProProGluGluGluProLeuValLeuMetCysGlyProProProMetIleGlnTyrAlaCysLeuProAsnLeuAspHisValGlyHisProThrGluArgCysPheValPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830964"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 932,
          "referenceAllele": "G",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000688117.1:c.807G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509015.1:p.Trp269Ter",
        "hgvsWellDefined": "ENSP00000509015.1:p.Trp269_Phe334delinsTyrThrLeuAspArgAlaProGluAlaTrpAspTyrGlyGlnGlyPheValAsnGluGluMetIleArgAspHisLeuProProProGluGluGluProLeuValLeuMetCysGlyProProProMetIleGlnTyrAlaCysLeuProAsnLeuAspHisValGlyHisProThrGluArgCysPheValPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831449"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 477,
          "referenceAllele": "G",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000688244.1:c.408G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510355.1:p.Trp136Ter",
        "hgvsWellDefined": "ENSP00000510355.1:p.Trp136_Phe201delinsTyrThrLeuAspArgAlaProGluAlaTrpAspTyrGlyGlnGlyPheValAsnGluGluMetIleArgAspHisLeuProProProGluGluGluProLeuValLeuMetCysGlyProProProMetIleGlnTyrAlaCysLeuProAsnLeuAspHisValGlyHisProThrGluArgCysPheValPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831520"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1330,
          "referenceAllele": "G",
          "start": 1329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000689001.1:n.1330G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831932"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 671,
          "referenceAllele": "G",
          "start": 670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000689195.1:c.624G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509895.1:p.Trp208Ter",
        "hgvsWellDefined": "ENSP00000509895.1:p.Trp208_Phe273delinsTyrThrLeuAspArgAlaProGluAlaTrpAspTyrGlyGlnGlyPheValAsnGluGluMetIleArgAspHisLeuProProProGluGluGluProLeuValLeuMetCysGlyProProProMetIleGlnTyrAlaCysLeuProAsnLeuAspHisValGlyHisProThrGluArgCysPheValPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832045"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 875,
          "referenceAllele": "G",
          "start": 874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000689239.1:n.875G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832068"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 969,
          "referenceAllele": "G",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000689795.1:n.969G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832370"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 844,
          "referenceAllele": "G",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000690835.1:c.*87G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509038.1:n.*87G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832900"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1463,
          "referenceAllele": "G",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000690993.1:n.1463G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832982"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 629,
          "referenceAllele": "G",
          "start": 628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000691295.1:c.*191G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508706.1:n.*191G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833146"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 998,
          "referenceAllele": "G",
          "start": 997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000691918.1:c.998G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509525.1:n.998G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833449"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 969,
          "referenceAllele": "G",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000692152.1:c.639G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509317.1:p.Trp213Ter",
        "hgvsWellDefined": "ENSP00000509317.1:p.Trp213_Phe278delinsTyrThrLeuAspArgAlaProGluAlaTrpAspTyrGlyGlnGlyPheValAsnGluGluMetIleArgAspHisLeuProProProGluGluGluProLeuValLeuMetCysGlyProProProMetIleGlnTyrAlaCysLeuProAsnLeuAspHisValGlyHisProThrGluArgCysPheValPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833568"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1195,
          "referenceAllele": "G",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000692344.1:n.1195G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833671"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 797,
          "referenceAllele": "G",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000693363.1:c.750G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510411.1:p.Trp250Ter",
        "hgvsWellDefined": "ENSP00000510411.1:p.Trp250_Phe315delinsTyrThrLeuAspArgAlaProGluAlaTrpAspTyrGlyGlnGlyPheValAsnGluGluMetIleArgAspHisLeuProProProGluGluGluProLeuValLeuMetCysGlyProProProMetIleGlnTyrAlaCysLeuProAsnLeuAspHisValGlyHisProThrGluArgCysPheValPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834208"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 715,
          "referenceAllele": "G",
          "start": 714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000693367.1:c.708G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508815.1:p.Trp236Ter",
        "hgvsWellDefined": "ENSP00000508815.1:p.Trp236_Arg298delinsTyrThrLeuAspArgAlaProGluAlaTrpAspTyrGlyGlnGlyPheValAsnGluGluMetIleArgAspHisLeuProProProGluGluGluProLeuValLeuMetCysGlyProProProMetIleGlnAspGlyValSerProCysTrpProGlyTrpSerArgProProAspPheArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834211"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 701,
          "referenceAllele": "G",
          "start": 700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000693639.1:c.701G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510223.1:n.701G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834345"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 614,
          "referenceAllele": "G",
          "start": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000693646.1:c.614G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508449.1:n.614G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834350"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 785,
          "referenceAllele": "G",
          "start": 784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000352397.10:c.708G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338461.6:p.Trp236Ter",
        "hgvsWellDefined": "ENSP00000338461.6:p.Trp236_Phe301delinsTyrThrLeuAspArgAlaProGluAlaTrpAspTyrGlyGlnGlyPheValAsnGluGluMetIleArgAspHisLeuProProProGluGluGluProLeuValLeuMetCysGlyProProProMetIleGlnTyrAlaCysLeuProAsnLeuAspHisValGlyHisProThrGluArgCysPheValPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748487",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352397.10:c.708G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000398.7:c.708G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338461.6:p.Trp236Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000389.1:p.Trp236Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 961,
          "referenceAllele": "G",
          "start": 960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000352397.9:c.708G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338461.6:p.Trp236Ter",
        "hgvsWellDefined": "ENSP00000338461.6:p.Trp236_Phe301delinsTyrThrLeuAspArgAlaProGluAlaTrpAspTyrGlyGlnGlyPheValAsnGluGluMetIleArgAspHisLeuProProProGluGluGluProLeuValLeuMetCysGlyProProProMetIleGlnTyrAlaCysLeuProAsnLeuAspHisValGlyHisProThrGluArgCysPheValPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262862"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 807,
          "referenceAllele": "G",
          "start": 806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000361740.8:c.807G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354468.4:p.Trp269Ter",
        "hgvsWellDefined": "ENSP00000354468.4:p.Trp269_Phe334delinsTyrThrLeuAspArgAlaProGluAlaTrpAspTyrGlyGlnGlyPheValAsnGluGluMetIleArgAspHisLeuProProProGluGluGluProLeuValLeuMetCysGlyProProProMetIleGlnTyrAlaCysLeuProAsnLeuAspHisValGlyHisProThrGluArgCysPheValPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265634"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 823,
          "referenceAllele": "G",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000402438.5:c.639G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385679.1:p.Trp213Ter",
        "hgvsWellDefined": "ENSP00000385679.1:p.Trp213_Phe278delinsTyrThrLeuAspArgAlaProGluAlaTrpAspTyrGlyGlnGlyPheValAsnGluGluMetIleArgAspHisLeuProProProGluGluGluProLeuValLeuMetCysGlyProProProMetIleGlnTyrAlaCysLeuProAsnLeuAspHisValGlyHisProThrGluArgCysPheValPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279519"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 731,
          "referenceAllele": "G",
          "start": 730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000407332.5:c.639G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384457.1:p.Trp213Ter",
        "hgvsWellDefined": "ENSP00000384457.1:p.Trp213_Phe278delinsTyrThrLeuAspArgAlaProGluAlaTrpAspTyrGlyGlnGlyPheValAsnGluGluMetIleArgAspHisLeuProProProGluGluGluProLeuValLeuMetCysGlyProProProMetIleGlnTyrAlaCysLeuProAsnLeuAspHisValGlyHisProThrGluArgCysPheValPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280893"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1024,
          "referenceAllele": "G",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000407623.7:c.639G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384834.3:p.Trp213Ter",
        "hgvsWellDefined": "ENSP00000384834.3:p.Trp213_Phe278delinsTyrThrLeuAspArgAlaProGluAlaTrpAspTyrGlyGlnGlyPheValAsnGluGluMetIleArgAspHisLeuProProProGluGluGluProLeuValLeuMetCysGlyProProProMetIleGlnTyrAlaCysLeuProAsnLeuAspHisValGlyHisProThrGluArgCysPheValPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280965"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2842,
          "referenceAllele": "G",
          "start": 2841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000470741.1:n.2842G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313105"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825158531",
      "coordinates": [
        {
          "allele": "A",
          "end": 792,
          "referenceAllele": "G",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "NM_000398.6:c.708G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000389.1:p.Trp236Ter",
        "hgvsWellDefined": "NP_000389.1:p.Trp236_Phe301delinsTyrThrLeuAspArgAlaProGluAlaTrpAspTyrGlyGlnGlyPheValAsnGluGluMetIleArgAspHisLeuProProProGluGluGluProLeuValLeuMetCysGlyProProProMetIleGlnTyrAlaCysLeuProAsnLeuAspHisValGlyHisProThrGluArgCysPheValPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006459"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825702176",
      "coordinates": [
        {
          "allele": "A",
          "end": 1036,
          "referenceAllele": "G",
          "start": 1035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "NM_001129819.2:c.639G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123291.1:p.Trp213Ter",
        "hgvsWellDefined": "NP_001123291.1:p.Trp213_Phe278delinsTyrThrLeuAspArgAlaProGluAlaTrpAspTyrGlyGlnGlyPheValAsnGluGluMetIleArgAspHisLeuProProProGluGluGluProLeuValLeuMetCysGlyProProProMetIleGlnTyrAlaCysLeuProAsnLeuAspHisValGlyHisProThrGluArgCysPheValPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011866"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580156560",
      "coordinates": [
        {
          "allele": "A",
          "end": 932,
          "referenceAllele": "G",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "NM_001171660.1:c.807G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165131.1:p.Trp269Ter",
        "hgvsWellDefined": "NP_001165131.1:p.Trp269_Phe334delinsTyrThrLeuAspArgAlaProGluAlaTrpAspTyrGlyGlnGlyPheValAsnGluGluMetIleArgAspHisLeuProProProGluGluGluProLeuValLeuMetCysGlyProProProMetIleGlnTyrAlaCysLeuProAsnLeuAspHisValGlyHisProThrGluArgCysPheValPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826088238",
      "coordinates": [
        {
          "allele": "A",
          "end": 852,
          "referenceAllele": "G",
          "start": 851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "NM_001171661.1:c.639G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165132.1:p.Trp213Ter",
        "hgvsWellDefined": "NP_001165132.1:p.Trp213_Phe278delinsTyrThrLeuAspArgAlaProGluAlaTrpAspTyrGlyGlnGlyPheValAsnGluGluMetIleArgAspHisLeuProProProGluGluGluProLeuValLeuMetCysGlyProProProMetIleGlnTyrAlaCysLeuProAsnLeuAspHisValGlyHisProThrGluArgCysPheValPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829714822",
      "coordinates": [
        {
          "allele": "A",
          "end": 791,
          "referenceAllele": "G",
          "start": 790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "NM_007326.4:c.639G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_015565.1:p.Trp213Ter",
        "hgvsWellDefined": "NP_015565.1:p.Trp213_Phe278delinsTyrThrLeuAspArgAlaProGluAlaTrpAspTyrGlyGlnGlyPheValAsnGluGluMetIleArgAspHisLeuProProProGluGluGluProLeuValLeuMetCysGlyProProProMetIleGlnTyrAlaCysLeuProAsnLeuAspHisValGlyHisProThrGluArgCysPheValPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032229"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825158531",
      "coordinates": [
        {
          "allele": "A",
          "end": 785,
          "referenceAllele": "G",
          "start": 784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "NM_000398.7:c.708G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000389.1:p.Trp236Ter",
        "hgvsWellDefined": "NP_000389.1:p.Trp236_Phe301delinsTyrThrLeuAspArgAlaProGluAlaTrpAspTyrGlyGlnGlyPheValAsnGluGluMetIleArgAspHisLeuProProProGluGluGluProLeuValLeuMetCysGlyProProProMetIleGlnTyrAlaCysLeuProAsnLeuAspHisValGlyHisProThrGluArgCysPheValPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662427",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352397.10:c.708G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000398.7:c.708G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338461.6:p.Trp236Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000389.1:p.Trp236Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580156560",
      "coordinates": [
        {
          "allele": "A",
          "end": 924,
          "referenceAllele": "G",
          "start": 923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "NM_001171660.2:c.807G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165131.1:p.Trp269Ter",
        "hgvsWellDefined": "NP_001165131.1:p.Trp269_Phe334delinsTyrThrLeuAspArgAlaProGluAlaTrpAspTyrGlyGlnGlyPheValAsnGluGluMetIleArgAspHisLeuProProProGluGluGluProLeuValLeuMetCysGlyProProProMetIleGlnTyrAlaCysLeuProAsnLeuAspHisValGlyHisProThrGluArgCysPheValPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713381"
    }
  ],
  "type": "nucleotide"
}