{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA358563996",
  "communityStandardTitle": [
    "NM_004453.4(ETFDH):c.1366C>G (p.Pro456Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1368716[alleleid]",
        "alleleId": 1368716,
        "preferredName": "NM_004453.4(ETFDH):c.1366C>G (p.Pro456Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1494930",
        "RCV": [
          "RCV001999050"
        ],
        "variationId": 1494930
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.159627421C>G?assembly=hg19",
        "id": "chr4:g.159627421C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.158706269C>G?assembly=hg38",
        "id": "chr4:g.158706269C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/751821289",
        "rs": 751821289
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 158706269,
          "referenceAllele": "C",
          "start": 158706268
        }
      ],
      "hgvs": [
        "NC_000004.12:g.158706269C>G",
        "CM000666.2:g.158706269C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 159627421,
          "referenceAllele": "C",
          "start": 159627420
        }
      ],
      "hgvs": [
        "NC_000004.11:g.159627421C>G",
        "CM000666.1:g.159627421C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 159846871,
          "referenceAllele": "C",
          "start": 159846870
        }
      ],
      "hgvs": [
        "NC_000004.10:g.159846871C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 38928,
          "referenceAllele": "C",
          "start": 38927
        }
      ],
      "hgvs": [
        "NG_007078.2:g.38928C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000458"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2902,
          "referenceAllele": "C",
          "start": 2901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000681978.1:n.2902C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826978"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2398,
          "referenceAllele": "C",
          "start": 2397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682178.1:n.2398C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827175"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1518,
          "referenceAllele": "C",
          "start": 1517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682345.1:c.*1066C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508122.1:n.*1066C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827337"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1697,
          "referenceAllele": "C",
          "start": 1696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682452.1:n.1697C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827442"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1416,
          "referenceAllele": "C",
          "start": 1415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682456.1:c.1225C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508240.1:p.Pro409Ala",
        "hgvsWellDefined": "ENSP00000508240.1:p.Pro409Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827446"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2149,
          "referenceAllele": "C",
          "start": 2148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682566.1:n.2149C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827556"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1678,
          "referenceAllele": "C",
          "start": 1677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682613.1:n.1678C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827602"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1079,
          "referenceAllele": "C",
          "start": 1078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682734.1:c.193C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507860.1:p.Pro65Ala",
        "hgvsWellDefined": "ENSP00000507860.1:p.Pro65Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827723"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1403,
          "referenceAllele": "C",
          "start": 1402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682820.1:n.1403C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827808"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1407,
          "referenceAllele": "C",
          "start": 1406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683004.1:c.*1059C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506936.1:n.*1059C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827991"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1453,
          "referenceAllele": "C",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683079.1:c.*791C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507296.1:n.*791C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828064"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1490,
          "referenceAllele": "C",
          "start": 1489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683081.1:c.*1203C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507722.1:n.*1203C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828066"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 645,
          "referenceAllele": "C",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683181.1:n.645C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828165"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3692,
          "referenceAllele": "C",
          "start": 3691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683209.1:n.3692C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828191"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1419,
          "referenceAllele": "C",
          "start": 1418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683305.1:c.1183C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508043.1:p.Pro395Ala",
        "hgvsWellDefined": "ENSP00000508043.1:p.Pro395Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828286"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1168,
          "referenceAllele": "C",
          "start": 1167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683448.1:c.*286C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506931.1:n.*286C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828425"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1385,
          "referenceAllele": "C",
          "start": 1384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683478.1:c.*717C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507793.1:n.*717C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828453"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1413,
          "referenceAllele": "C",
          "start": 1412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683483.1:c.1222C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507719.1:p.Pro408Ala",
        "hgvsWellDefined": "ENSP00000507719.1:p.Pro408Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828457"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1080,
          "referenceAllele": "C",
          "start": 1079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683622.1:n.1080C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828594"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1145,
          "referenceAllele": "C",
          "start": 1144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683751.1:c.871C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506944.1:p.Pro291Ala",
        "hgvsWellDefined": "ENSP00000506944.1:p.Pro291Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828722"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1746,
          "referenceAllele": "C",
          "start": 1745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684036.1:c.1183C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507276.1:p.Pro395Ala",
        "hgvsWellDefined": "ENSP00000507276.1:p.Pro395Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828997"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1046,
          "referenceAllele": "C",
          "start": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684129.1:c.193C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507174.1:p.Pro65Ala",
        "hgvsWellDefined": "ENSP00000507174.1:p.Pro65Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829087"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1741,
          "referenceAllele": "C",
          "start": 1740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684209.1:n.1741C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829166"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1617,
          "referenceAllele": "C",
          "start": 1616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684296.1:c.*286C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507740.1:n.*286C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829252"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1476,
          "referenceAllele": "C",
          "start": 1475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684505.1:c.1315C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508237.1:p.Pro439Ala",
        "hgvsWellDefined": "ENSP00000508237.1:p.Pro439Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829459"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4101,
          "referenceAllele": "C",
          "start": 4100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684552.1:c.*2785C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506899.1:n.*2785C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829505"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3094,
          "referenceAllele": "C",
          "start": 3093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684611.1:n.3094C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829563"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1557,
          "referenceAllele": "C",
          "start": 1556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684622.1:c.1366C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507546.1:p.Pro456Ala",
        "hgvsWellDefined": "ENSP00000507546.1:p.Pro456Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829574"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1935,
          "referenceAllele": "C",
          "start": 1934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684627.1:c.1183C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507471.1:p.Pro395Ala",
        "hgvsWellDefined": "ENSP00000507471.1:p.Pro395Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829579"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1272,
          "referenceAllele": "C",
          "start": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684641.1:c.1081C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507642.1:p.Pro361Ala",
        "hgvsWellDefined": "ENSP00000507642.1:p.Pro361Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829592"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1598,
          "referenceAllele": "C",
          "start": 1597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684675.1:c.*213C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506934.1:n.*213C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829626"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1435,
          "referenceAllele": "C",
          "start": 1434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684749.1:n.1435C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829699"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1527,
          "referenceAllele": "C",
          "start": 1526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000511912.6:c.1366C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426638.1:p.Pro456Ala",
        "hgvsWellDefined": "ENSP00000426638.1:p.Pro456Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758258",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000511912.6:c.1366C>G"
          },
          "RefSeq": {
            "hgvs": "NM_004453.4:c.1366C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000426638.1:p.Pro456Ala"
          },
          "RefSeq": {
            "hgvs": "NP_004444.2:p.Pro456Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1343,
          "referenceAllele": "C",
          "start": 1342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000307738.5:c.1225C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303552.5:p.Pro409Ala",
        "hgvsWellDefined": "ENSP00000303552.5:p.Pro409Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255936"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 336,
          "referenceAllele": "C",
          "start": 335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000506422.1:n.336C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS337962"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1698,
          "referenceAllele": "C",
          "start": 1697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000511912.5:c.1366C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426638.1:p.Pro456Ala",
        "hgvsWellDefined": "ENSP00000426638.1:p.Pro456Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342075"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826593728",
      "coordinates": [
        {
          "allele": "G",
          "end": 1581,
          "referenceAllele": "C",
          "start": 1580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_001281737.1:c.1225C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268666.1:p.Pro409Ala",
        "hgvsWellDefined": "NP_001268666.1:p.Pro409Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021701"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826594857",
      "coordinates": [
        {
          "allele": "G",
          "end": 1278,
          "referenceAllele": "C",
          "start": 1277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_001281738.1:c.1183C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268667.1:p.Pro395Ala",
        "hgvsWellDefined": "NP_001268667.1:p.Pro395Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021702"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573234796",
      "coordinates": [
        {
          "allele": "G",
          "end": 1722,
          "referenceAllele": "C",
          "start": 1721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_004453.3:c.1366C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004444.2:p.Pro456Ala",
        "hgvsWellDefined": "NP_004444.2:p.Pro456Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029615"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1398,
          "referenceAllele": "C",
          "start": 1397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "XM_024453935.1:c.1183C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309703.1:p.Pro395Ala",
        "hgvsWellDefined": "XP_024309703.1:p.Pro395Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573234796",
      "coordinates": [
        {
          "allele": "G",
          "end": 1527,
          "referenceAllele": "C",
          "start": 1526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_004453.4:c.1366C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004444.2:p.Pro456Ala",
        "hgvsWellDefined": "NP_004444.2:p.Pro456Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696142",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000511912.6:c.1366C>G"
          },
          "RefSeq": {
            "hgvs": "NM_004453.4:c.1366C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000426638.1:p.Pro456Ala"
          },
          "RefSeq": {
            "hgvs": "NP_004444.2:p.Pro456Ala"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826593728",
      "coordinates": [
        {
          "allele": "G",
          "end": 1386,
          "referenceAllele": "C",
          "start": 1385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_001281737.2:c.1225C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268666.1:p.Pro409Ala",
        "hgvsWellDefined": "NP_001268666.1:p.Pro409Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715722"
    }
  ],
  "type": "nucleotide"
}