{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA358566951",
  "communityStandardTitle": [
    "NM_004453.4(ETFDH):c.1831G>C (p.Gly611Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4173837[alleleid]",
        "alleleId": 4173837,
        "preferredName": "NM_004453.4(ETFDH):c.1831G>C (p.Gly611Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4067464",
        "RCV": [
          "RCV005617806"
        ],
        "variationId": 4067464
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.159629656G>C?assembly=hg19",
        "id": "chr4:g.159629656G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.158708504G>C?assembly=hg38",
        "id": "chr4:g.158708504G>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 158708504,
          "referenceAllele": "G",
          "start": 158708503
        }
      ],
      "hgvs": [
        "NC_000004.12:g.158708504G>C",
        "CM000666.2:g.158708504G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 159629656,
          "referenceAllele": "G",
          "start": 159629655
        }
      ],
      "hgvs": [
        "NC_000004.11:g.159629656G>C",
        "CM000666.1:g.159629656G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 159849106,
          "referenceAllele": "G",
          "start": 159849105
        }
      ],
      "hgvs": [
        "NC_000004.10:g.159849106G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 41163,
          "referenceAllele": "G",
          "start": 41162
        }
      ],
      "hgvs": [
        "NG_007078.2:g.41163G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000458"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3367,
          "referenceAllele": "G",
          "start": 3366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000681978.1:n.3367G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826978"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2863,
          "referenceAllele": "G",
          "start": 2862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682178.1:n.2863G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827175"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1983,
          "referenceAllele": "G",
          "start": 1982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682345.1:c.*1531G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508122.1:n.*1531G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827337"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2162,
          "referenceAllele": "G",
          "start": 2161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682452.1:n.2162G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827442"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1881,
          "referenceAllele": "G",
          "start": 1880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682456.1:c.1690G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508240.1:p.Gly564Arg",
        "hgvsWellDefined": "ENSP00000508240.1:p.Gly564Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827446"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2614,
          "referenceAllele": "G",
          "start": 2613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682566.1:n.2614G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827556"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2143,
          "referenceAllele": "G",
          "start": 2142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682613.1:n.2143G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827602"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1544,
          "referenceAllele": "G",
          "start": 1543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682734.1:c.658G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507860.1:p.Gly220Arg",
        "hgvsWellDefined": "ENSP00000507860.1:p.Gly220Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827723"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1868,
          "referenceAllele": "G",
          "start": 1867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682820.1:n.1868G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827808"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1872,
          "referenceAllele": "G",
          "start": 1871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683004.1:c.*1524G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506936.1:n.*1524G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827991"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1918,
          "referenceAllele": "G",
          "start": 1917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683079.1:c.*1256G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507296.1:n.*1256G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828064"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1955,
          "referenceAllele": "G",
          "start": 1954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683081.1:c.*1668G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507722.1:n.*1668G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828066"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1110,
          "referenceAllele": "G",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683181.1:n.1110G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828165"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4157,
          "referenceAllele": "G",
          "start": 4156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683209.1:n.4157G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828191"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1884,
          "referenceAllele": "G",
          "start": 1883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683305.1:c.1648G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508043.1:p.Gly550Arg",
        "hgvsWellDefined": "ENSP00000508043.1:p.Gly550Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828286"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1633,
          "referenceAllele": "G",
          "start": 1632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683448.1:c.*751G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506931.1:n.*751G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828425"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1850,
          "referenceAllele": "G",
          "start": 1849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683478.1:c.*1182G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507793.1:n.*1182G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828453"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1878,
          "referenceAllele": "G",
          "start": 1877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683483.1:c.1687G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507719.1:p.Gly563Arg",
        "hgvsWellDefined": "ENSP00000507719.1:p.Gly563Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828457"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3058,
          "referenceAllele": "G",
          "start": 3057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683622.1:n.3058G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828594"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1610,
          "referenceAllele": "G",
          "start": 1609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683751.1:c.1336G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506944.1:p.Gly446Arg",
        "hgvsWellDefined": "ENSP00000506944.1:p.Gly446Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828722"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2211,
          "referenceAllele": "G",
          "start": 2210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684036.1:c.1648G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507276.1:p.Gly550Arg",
        "hgvsWellDefined": "ENSP00000507276.1:p.Gly550Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828997"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1511,
          "referenceAllele": "G",
          "start": 1510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684129.1:c.658G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507174.1:p.Gly220Arg",
        "hgvsWellDefined": "ENSP00000507174.1:p.Gly220Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829087"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2206,
          "referenceAllele": "G",
          "start": 2205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684209.1:n.2206G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829166"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2082,
          "referenceAllele": "G",
          "start": 2081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684296.1:c.*751G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507740.1:n.*751G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829252"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1941,
          "referenceAllele": "G",
          "start": 1940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684505.1:c.1780G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508237.1:p.Gly594Arg",
        "hgvsWellDefined": "ENSP00000508237.1:p.Gly594Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829459"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4566,
          "referenceAllele": "G",
          "start": 4565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684552.1:c.*3250G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506899.1:n.*3250G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829505"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3559,
          "referenceAllele": "G",
          "start": 3558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684611.1:n.3559G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829563"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2400,
          "referenceAllele": "G",
          "start": 2399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684627.1:c.1648G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507471.1:p.Gly550Arg",
        "hgvsWellDefined": "ENSP00000507471.1:p.Gly550Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829579"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1737,
          "referenceAllele": "G",
          "start": 1736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684641.1:c.1546G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507642.1:p.Gly516Arg",
        "hgvsWellDefined": "ENSP00000507642.1:p.Gly516Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829592"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2063,
          "referenceAllele": "G",
          "start": 2062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684675.1:c.*678G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506934.1:n.*678G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829626"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1900,
          "referenceAllele": "G",
          "start": 1899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684749.1:n.1900G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829699"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1992,
          "referenceAllele": "G",
          "start": 1991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000511912.6:c.1831G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426638.1:p.Gly611Arg",
        "hgvsWellDefined": "ENSP00000426638.1:p.Gly611Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758258",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000511912.6:c.1831G>C"
          },
          "RefSeq": {
            "hgvs": "NM_004453.4:c.1831G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000426638.1:p.Gly611Arg"
          },
          "RefSeq": {
            "hgvs": "NP_004444.2:p.Gly611Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1808,
          "referenceAllele": "G",
          "start": 1807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000307738.5:c.1690G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303552.5:p.Gly564Arg",
        "hgvsWellDefined": "ENSP00000303552.5:p.Gly564Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255936"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 801,
          "referenceAllele": "G",
          "start": 800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000506422.1:n.801G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS337962"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2163,
          "referenceAllele": "G",
          "start": 2162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000511912.5:c.1831G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426638.1:p.Gly611Arg",
        "hgvsWellDefined": "ENSP00000426638.1:p.Gly611Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342075"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826594088",
      "coordinates": [
        {
          "allele": "C",
          "end": 2046,
          "referenceAllele": "G",
          "start": 2045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_001281737.1:c.1690G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268666.1:p.Gly564Arg",
        "hgvsWellDefined": "NP_001268666.1:p.Gly564Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021701"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826595245",
      "coordinates": [
        {
          "allele": "C",
          "end": 1743,
          "referenceAllele": "G",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_001281738.1:c.1648G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268667.1:p.Gly550Arg",
        "hgvsWellDefined": "NP_001268667.1:p.Gly550Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021702"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741911734",
      "coordinates": [
        {
          "allele": "C",
          "end": 2187,
          "referenceAllele": "G",
          "start": 2186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_004453.3:c.1831G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004444.2:p.Gly611Arg",
        "hgvsWellDefined": "NP_004444.2:p.Gly611Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029615"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1863,
          "referenceAllele": "G",
          "start": 1862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "XM_024453935.1:c.1648G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309703.1:p.Gly550Arg",
        "hgvsWellDefined": "XP_024309703.1:p.Gly550Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741911734",
      "coordinates": [
        {
          "allele": "C",
          "end": 1992,
          "referenceAllele": "G",
          "start": 1991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_004453.4:c.1831G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004444.2:p.Gly611Arg",
        "hgvsWellDefined": "NP_004444.2:p.Gly611Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696142",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000511912.6:c.1831G>C"
          },
          "RefSeq": {
            "hgvs": "NM_004453.4:c.1831G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000426638.1:p.Gly611Arg"
          },
          "RefSeq": {
            "hgvs": "NP_004444.2:p.Gly611Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826594088",
      "coordinates": [
        {
          "allele": "C",
          "end": 1851,
          "referenceAllele": "G",
          "start": 1850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_001281737.2:c.1690G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268666.1:p.Gly564Arg",
        "hgvsWellDefined": "NP_001268666.1:p.Gly564Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715722"
    }
  ],
  "type": "nucleotide"
}