{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA358563929",
  "communityStandardTitle": [
    "NM_004453.4(ETFDH):c.1354A>G (p.Arg452Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1410791[alleleid]",
        "alleleId": 1410791,
        "preferredName": "NM_004453.4(ETFDH):c.1354A>G (p.Arg452Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1474260",
        "RCV": [
          "RCV001971135"
        ],
        "variationId": 1474260
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.159627409A>G?assembly=hg19",
        "id": "chr4:g.159627409A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.158706257A>G?assembly=hg38",
        "id": "chr4:g.158706257A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1580422659",
        "rs": 1580422659
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 158706257,
          "referenceAllele": "A",
          "start": 158706256
        }
      ],
      "hgvs": [
        "NC_000004.12:g.158706257A>G",
        "CM000666.2:g.158706257A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 159627409,
          "referenceAllele": "A",
          "start": 159627408
        }
      ],
      "hgvs": [
        "NC_000004.11:g.159627409A>G",
        "CM000666.1:g.159627409A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 159846859,
          "referenceAllele": "A",
          "start": 159846858
        }
      ],
      "hgvs": [
        "NC_000004.10:g.159846859A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 38916,
          "referenceAllele": "A",
          "start": 38915
        }
      ],
      "hgvs": [
        "NG_007078.2:g.38916A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000458"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2890,
          "referenceAllele": "A",
          "start": 2889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000681978.1:n.2890A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826978"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2386,
          "referenceAllele": "A",
          "start": 2385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682178.1:n.2386A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827175"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1506,
          "referenceAllele": "A",
          "start": 1505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682345.1:c.*1054A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508122.1:n.*1054A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827337"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1685,
          "referenceAllele": "A",
          "start": 1684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682452.1:n.1685A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827442"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1404,
          "referenceAllele": "A",
          "start": 1403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682456.1:c.1213A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508240.1:p.Arg405Gly",
        "hgvsWellDefined": "ENSP00000508240.1:p.Arg405Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827446"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2137,
          "referenceAllele": "A",
          "start": 2136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682566.1:n.2137A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827556"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1666,
          "referenceAllele": "A",
          "start": 1665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682613.1:n.1666A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827602"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1067,
          "referenceAllele": "A",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682734.1:c.181A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507860.1:p.Arg61Gly",
        "hgvsWellDefined": "ENSP00000507860.1:p.Arg61Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827723"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1391,
          "referenceAllele": "A",
          "start": 1390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682820.1:n.1391A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827808"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1395,
          "referenceAllele": "A",
          "start": 1394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683004.1:c.*1047A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506936.1:n.*1047A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827991"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1441,
          "referenceAllele": "A",
          "start": 1440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683079.1:c.*779A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507296.1:n.*779A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828064"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1478,
          "referenceAllele": "A",
          "start": 1477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683081.1:c.*1191A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507722.1:n.*1191A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828066"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 633,
          "referenceAllele": "A",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683181.1:n.633A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828165"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3680,
          "referenceAllele": "A",
          "start": 3679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683209.1:n.3680A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828191"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1407,
          "referenceAllele": "A",
          "start": 1406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683305.1:c.1171A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508043.1:p.Arg391Gly",
        "hgvsWellDefined": "ENSP00000508043.1:p.Arg391Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828286"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1156,
          "referenceAllele": "A",
          "start": 1155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683448.1:c.*274A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506931.1:n.*274A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828425"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1373,
          "referenceAllele": "A",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683478.1:c.*705A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507793.1:n.*705A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828453"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1401,
          "referenceAllele": "A",
          "start": 1400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683483.1:c.1210A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507719.1:p.Arg404Gly",
        "hgvsWellDefined": "ENSP00000507719.1:p.Arg404Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828457"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1068,
          "referenceAllele": "A",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683622.1:n.1068A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828594"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1133,
          "referenceAllele": "A",
          "start": 1132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683751.1:c.859A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506944.1:p.Arg287Gly",
        "hgvsWellDefined": "ENSP00000506944.1:p.Arg287Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828722"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1734,
          "referenceAllele": "A",
          "start": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684036.1:c.1171A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507276.1:p.Arg391Gly",
        "hgvsWellDefined": "ENSP00000507276.1:p.Arg391Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828997"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1034,
          "referenceAllele": "A",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684129.1:c.181A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507174.1:p.Arg61Gly",
        "hgvsWellDefined": "ENSP00000507174.1:p.Arg61Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829087"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1729,
          "referenceAllele": "A",
          "start": 1728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684209.1:n.1729A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829166"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1605,
          "referenceAllele": "A",
          "start": 1604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684296.1:c.*274A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507740.1:n.*274A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829252"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1464,
          "referenceAllele": "A",
          "start": 1463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684505.1:c.1303A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508237.1:p.Arg435Gly",
        "hgvsWellDefined": "ENSP00000508237.1:p.Arg435Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829459"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4089,
          "referenceAllele": "A",
          "start": 4088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684552.1:c.*2773A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506899.1:n.*2773A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829505"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3082,
          "referenceAllele": "A",
          "start": 3081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684611.1:n.3082A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829563"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1545,
          "referenceAllele": "A",
          "start": 1544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684622.1:c.1354A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507546.1:p.Arg452Gly",
        "hgvsWellDefined": "ENSP00000507546.1:p.Arg452Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829574"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1923,
          "referenceAllele": "A",
          "start": 1922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684627.1:c.1171A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507471.1:p.Arg391Gly",
        "hgvsWellDefined": "ENSP00000507471.1:p.Arg391Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829579"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1260,
          "referenceAllele": "A",
          "start": 1259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684641.1:c.1069A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507642.1:p.Arg357Gly",
        "hgvsWellDefined": "ENSP00000507642.1:p.Arg357Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829592"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1586,
          "referenceAllele": "A",
          "start": 1585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684675.1:c.*201A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506934.1:n.*201A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829626"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1423,
          "referenceAllele": "A",
          "start": 1422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684749.1:n.1423A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829699"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1515,
          "referenceAllele": "A",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000511912.6:c.1354A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426638.1:p.Arg452Gly",
        "hgvsWellDefined": "ENSP00000426638.1:p.Arg452Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758258",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000511912.6:c.1354A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004453.4:c.1354A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000426638.1:p.Arg452Gly"
          },
          "RefSeq": {
            "hgvs": "NP_004444.2:p.Arg452Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1331,
          "referenceAllele": "A",
          "start": 1330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000307738.5:c.1213A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303552.5:p.Arg405Gly",
        "hgvsWellDefined": "ENSP00000303552.5:p.Arg405Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255936"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 324,
          "referenceAllele": "A",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000506422.1:n.324A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS337962"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1686,
          "referenceAllele": "A",
          "start": 1685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000511912.5:c.1354A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426638.1:p.Arg452Gly",
        "hgvsWellDefined": "ENSP00000426638.1:p.Arg452Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342075"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826593717",
      "coordinates": [
        {
          "allele": "G",
          "end": 1569,
          "referenceAllele": "A",
          "start": 1568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_001281737.1:c.1213A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268666.1:p.Arg405Gly",
        "hgvsWellDefined": "NP_001268666.1:p.Arg405Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021701"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826594838",
      "coordinates": [
        {
          "allele": "G",
          "end": 1266,
          "referenceAllele": "A",
          "start": 1265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_001281738.1:c.1171A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268667.1:p.Arg391Gly",
        "hgvsWellDefined": "NP_001268667.1:p.Arg391Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021702"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573234785",
      "coordinates": [
        {
          "allele": "G",
          "end": 1710,
          "referenceAllele": "A",
          "start": 1709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_004453.3:c.1354A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004444.2:p.Arg452Gly",
        "hgvsWellDefined": "NP_004444.2:p.Arg452Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029615"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1386,
          "referenceAllele": "A",
          "start": 1385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "XM_024453935.1:c.1171A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309703.1:p.Arg391Gly",
        "hgvsWellDefined": "XP_024309703.1:p.Arg391Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573234785",
      "coordinates": [
        {
          "allele": "G",
          "end": 1515,
          "referenceAllele": "A",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_004453.4:c.1354A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004444.2:p.Arg452Gly",
        "hgvsWellDefined": "NP_004444.2:p.Arg452Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696142",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000511912.6:c.1354A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004453.4:c.1354A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000426638.1:p.Arg452Gly"
          },
          "RefSeq": {
            "hgvs": "NP_004444.2:p.Arg452Gly"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826593717",
      "coordinates": [
        {
          "allele": "G",
          "end": 1374,
          "referenceAllele": "A",
          "start": 1373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_001281737.2:c.1213A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268666.1:p.Arg405Gly",
        "hgvsWellDefined": "NP_001268666.1:p.Arg405Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715722"
    }
  ],
  "type": "nucleotide"
}