{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA324703519",
  "communityStandardTitle": [
    "NM_000398.7(CYB5R3):c.182G>A (p.Arg61His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2415021[alleleid]",
        "alleleId": 2415021,
        "preferredName": "NM_000398.7(CYB5R3):c.182G>A (p.Arg61His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2440662",
        "RCV": [
          "RCV003145963"
        ],
        "variationId": 2440662
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.43027428C>T?assembly=hg19",
        "id": "chr22:g.43027428C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.42631422C>T?assembly=hg38",
        "id": "chr22:g.42631422C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/774242947",
        "rs": 774242947
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-43027428-C-T?dataset=gnomad_r2_1",
        "id": "22-43027428-C-T",
        "variant": "22:43027428 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-42631422-C-T?dataset=gnomad_r3",
        "id": "22-42631422-C-T",
        "variant": "22:42631422 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-42631422-C-T?dataset=gnomad_r4",
        "id": "22-42631422-C-T",
        "variant": "22:42631422 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 42631422,
          "referenceAllele": "C",
          "start": 42631421
        }
      ],
      "hgvs": [
        "NC_000022.11:g.42631422C>T",
        "CM000684.2:g.42631422C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 43027428,
          "referenceAllele": "C",
          "start": 43027427
        }
      ],
      "hgvs": [
        "NC_000022.10:g.43027428C>T",
        "CM000684.1:g.43027428C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 41357372,
          "referenceAllele": "C",
          "start": 41357371
        }
      ],
      "hgvs": [
        "NC_000022.9:g.41357372C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 22978,
          "referenceAllele": "G",
          "start": 22977
        }
      ],
      "hgvs": [
        "NG_012194.1:g.22978G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002277"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 259,
          "referenceAllele": "G",
          "start": 258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000361740.9:c.182G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354468.5:p.Arg61His",
        "hgvsWellDefined": "ENSP00000354468.5:p.Arg61His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824167"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 309,
          "referenceAllele": "G",
          "start": 308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000402438.6:c.113G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385679.1:p.Arg38His",
        "hgvsWellDefined": "ENSP00000385679.1:p.Arg38His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824566"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 220,
          "referenceAllele": "G",
          "start": 219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000407332.6:c.200G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384457.2:p.Arg67His",
        "hgvsWellDefined": "ENSP00000384457.2:p.Arg67His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824593"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 498,
          "referenceAllele": "G",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000407623.8:c.113G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384834.3:p.Arg38His",
        "hgvsWellDefined": "ENSP00000384834.3:p.Arg38His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824597"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 216,
          "referenceAllele": "G",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000438270.2:c.113G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403439.2:p.Arg38His",
        "hgvsWellDefined": "ENSP00000403439.2:p.Arg38His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824907"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 249,
          "referenceAllele": "G",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000466276.2:n.249G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825168"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 235,
          "referenceAllele": "G",
          "start": 234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000686129.1:c.113G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508623.1:p.Arg38His",
        "hgvsWellDefined": "ENSP00000508623.1:p.Arg38His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830413"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 328,
          "referenceAllele": "G",
          "start": 327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000686523.1:c.*131G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508940.1:n.*131G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830614"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 243,
          "referenceAllele": "G",
          "start": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000687183.1:n.243G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830955"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 346,
          "referenceAllele": "G",
          "start": 345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000687198.1:c.113G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508492.1:p.Arg38His",
        "hgvsWellDefined": "ENSP00000508492.1:p.Arg38His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830964"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 406,
          "referenceAllele": "G",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000688117.1:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509015.1:p.Arg94His",
        "hgvsWellDefined": "ENSP00000509015.1:p.Arg94His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831449"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 251,
          "referenceAllele": "G",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000688244.1:c.182G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510355.1:p.Arg61His",
        "hgvsWellDefined": "ENSP00000510355.1:p.Arg61His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831520"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 200,
          "referenceAllele": "G",
          "start": 199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000689001.1:n.200G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831932"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 229,
          "referenceAllele": "G",
          "start": 228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000689195.1:c.182G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509895.1:p.Arg61His",
        "hgvsWellDefined": "ENSP00000509895.1:p.Arg61His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832045"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 349,
          "referenceAllele": "G",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000689239.1:n.349G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832068"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 344,
          "referenceAllele": "G",
          "start": 343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000689795.1:n.344G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832370"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 219,
          "referenceAllele": "G",
          "start": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000690835.1:c.182G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509038.1:p.Arg61His",
        "hgvsWellDefined": "ENSP00000509038.1:p.Arg61His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832900"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 259,
          "referenceAllele": "G",
          "start": 258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000690993.1:n.259G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832982"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 233,
          "referenceAllele": "G",
          "start": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000691295.1:c.182G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508706.1:p.Arg61His",
        "hgvsWellDefined": "ENSP00000508706.1:p.Arg61His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833146"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 161,
          "referenceAllele": "G",
          "start": 160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000691918.1:c.161G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509525.1:p.Arg54His",
        "hgvsWellDefined": "ENSP00000509525.1:p.Arg54His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833449"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 443,
          "referenceAllele": "G",
          "start": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000692152.1:c.113G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509317.1:p.Arg38His",
        "hgvsWellDefined": "ENSP00000509317.1:p.Arg38His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833568"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 206,
          "referenceAllele": "G",
          "start": 205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000692344.1:n.206G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS833671"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 146,
          "endIntronDirection": "-",
          "endIntronOffset": 433,
          "referenceAllele": "G",
          "start": 146,
          "startIntronDirection": "-",
          "startIntronOffset": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000693157.1:c.147-434G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510610.1:n.147-434G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834089"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 229,
          "referenceAllele": "G",
          "start": 228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000693363.1:c.182G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510411.1:p.Arg61His",
        "hgvsWellDefined": "ENSP00000510411.1:p.Arg61His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834208"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 189,
          "referenceAllele": "G",
          "start": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000693367.1:c.182G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508815.1:p.Arg61His",
        "hgvsWellDefined": "ENSP00000508815.1:p.Arg61His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834211"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 175,
          "referenceAllele": "G",
          "start": 174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000693639.1:c.175G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510223.1:p.Ala59Thr",
        "hgvsWellDefined": "ENSP00000510223.1:p.Ala59Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834345"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 132,
          "endIntronDirection": "-",
          "endIntronOffset": 433,
          "referenceAllele": "G",
          "start": 132,
          "startIntronDirection": "-",
          "startIntronOffset": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000693646.1:c.133-434G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508449.1:n.133-434G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834350"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 410,
          "referenceAllele": "G",
          "start": 409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000693716.1:n.410G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834391"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 259,
          "referenceAllele": "G",
          "start": 258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000352397.10:c.182G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338461.6:p.Arg61His",
        "hgvsWellDefined": "ENSP00000338461.6:p.Arg61His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748487",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352397.10:c.182G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000398.7:c.182G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338461.6:p.Arg61His"
          },
          "RefSeq": {
            "hgvs": "NP_000389.1:p.Arg61His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 435,
          "referenceAllele": "G",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000352397.9:c.182G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000338461.6:p.Arg61His",
        "hgvsWellDefined": "ENSP00000338461.6:p.Arg61His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262862"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 281,
          "referenceAllele": "G",
          "start": 280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000361740.8:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354468.4:p.Arg94His",
        "hgvsWellDefined": "ENSP00000354468.4:p.Arg94His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265634"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 297,
          "referenceAllele": "G",
          "start": 296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000402438.5:c.113G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385679.1:p.Arg38His",
        "hgvsWellDefined": "ENSP00000385679.1:p.Arg38His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279519"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 205,
          "referenceAllele": "G",
          "start": 204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000407332.5:c.113G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384457.1:p.Arg38His",
        "hgvsWellDefined": "ENSP00000384457.1:p.Arg38His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280893"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 498,
          "referenceAllele": "G",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000407623.7:c.113G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384834.3:p.Arg38His",
        "hgvsWellDefined": "ENSP00000384834.3:p.Arg38His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280965"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 346,
          "referenceAllele": "G",
          "start": 345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000438270.1:c.113G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403439.1:p.Arg38His",
        "hgvsWellDefined": "ENSP00000403439.1:p.Arg38His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294850"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 200,
          "referenceAllele": "G",
          "start": 199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000466276.1:n.200G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309689"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1927,
          "referenceAllele": "G",
          "start": 1926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "ENST00000470741.1:n.1927G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313105"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825158446",
      "coordinates": [
        {
          "allele": "A",
          "end": 266,
          "referenceAllele": "G",
          "start": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "NM_000398.6:c.182G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000389.1:p.Arg61His",
        "hgvsWellDefined": "NP_000389.1:p.Arg61His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006459"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825702117",
      "coordinates": [
        {
          "allele": "A",
          "end": 510,
          "referenceAllele": "G",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "NM_001129819.2:c.113G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123291.1:p.Arg38His",
        "hgvsWellDefined": "NP_001123291.1:p.Arg38His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011866"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580156543",
      "coordinates": [
        {
          "allele": "A",
          "end": 406,
          "referenceAllele": "G",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "NM_001171660.1:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165131.1:p.Arg94His",
        "hgvsWellDefined": "NP_001165131.1:p.Arg94His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826088128",
      "coordinates": [
        {
          "allele": "A",
          "end": 326,
          "referenceAllele": "G",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "NM_001171661.1:c.113G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165132.1:p.Arg38His",
        "hgvsWellDefined": "NP_001165132.1:p.Arg38His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829714743",
      "coordinates": [
        {
          "allele": "A",
          "end": 265,
          "referenceAllele": "G",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "NM_007326.4:c.113G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_015565.1:p.Arg38His",
        "hgvsWellDefined": "NP_015565.1:p.Arg38His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032229"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825158446",
      "coordinates": [
        {
          "allele": "A",
          "end": 259,
          "referenceAllele": "G",
          "start": 258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "NM_000398.7:c.182G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000389.1:p.Arg61His",
        "hgvsWellDefined": "NP_000389.1:p.Arg61His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662427",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352397.10:c.182G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000398.7:c.182G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338461.6:p.Arg61His"
          },
          "RefSeq": {
            "hgvs": "NP_000389.1:p.Arg61His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580156543",
      "coordinates": [
        {
          "allele": "A",
          "end": 398,
          "referenceAllele": "G",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002873",
      "geneNCBI_id": 1727,
      "geneSymbol": "CYB5R3",
      "hgvs": [
        "NM_001171660.2:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001165131.1:p.Arg94His",
        "hgvsWellDefined": "NP_001165131.1:p.Arg94His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713381"
    }
  ],
  "type": "nucleotide"
}