{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA358562347",
  "communityStandardTitle": [
    "NM_004453.4(ETFDH):c.1099A>G (p.Asn367Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1367404[alleleid]",
        "alleleId": 1367404,
        "preferredName": "NM_004453.4(ETFDH):c.1099A>G (p.Asn367Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1481886",
        "RCV": [
          "RCV002000660"
        ],
        "variationId": 1481886
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.159620265A>G?assembly=hg19",
        "id": "chr4:g.159620265A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.158699113A>G?assembly=hg38",
        "id": "chr4:g.158699113A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2150312312",
        "rs": 2150312312
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-158699113-A-G?dataset=gnomad_r4",
        "id": "4-158699113-A-G",
        "variant": "4:158699113 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 158699113,
          "referenceAllele": "A",
          "start": 158699112
        }
      ],
      "hgvs": [
        "NC_000004.12:g.158699113A>G",
        "CM000666.2:g.158699113A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 159620265,
          "referenceAllele": "A",
          "start": 159620264
        }
      ],
      "hgvs": [
        "NC_000004.11:g.159620265A>G",
        "CM000666.1:g.159620265A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 159839715,
          "referenceAllele": "A",
          "start": 159839714
        }
      ],
      "hgvs": [
        "NC_000004.10:g.159839715A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 31772,
          "referenceAllele": "A",
          "start": 31771
        }
      ],
      "hgvs": [
        "NG_007078.2:g.31772A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000458"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2635,
          "referenceAllele": "A",
          "start": 2634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000681978.1:n.2635A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826978"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2131,
          "referenceAllele": "A",
          "start": 2130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682178.1:n.2131A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827175"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1251,
          "referenceAllele": "A",
          "start": 1250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682345.1:c.*799A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508122.1:n.*799A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827337"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1430,
          "referenceAllele": "A",
          "start": 1429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682452.1:n.1430A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827442"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1149,
          "referenceAllele": "A",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682456.1:c.958A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508240.1:p.Asn320Asp",
        "hgvsWellDefined": "ENSP00000508240.1:p.Asn320Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827446"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1882,
          "referenceAllele": "A",
          "start": 1881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682566.1:n.1882A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827556"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1411,
          "referenceAllele": "A",
          "start": 1410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682613.1:n.1411A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827602"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 812,
          "referenceAllele": "A",
          "start": 811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682734.1:c.-75A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507860.1:n.-75A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827723"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1136,
          "referenceAllele": "A",
          "start": 1135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682820.1:n.1136A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827808"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1157,
          "endIntronDirection": "+",
          "endIntronOffset": 1414,
          "referenceAllele": "A",
          "start": 1157,
          "startIntronDirection": "+",
          "startIntronOffset": 1413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683004.1:c.*809+1414A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506936.1:n.*809+1414A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827991"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1141,
          "referenceAllele": "A",
          "start": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683079.1:c.*479A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507296.1:n.*479A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828064"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1223,
          "referenceAllele": "A",
          "start": 1222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683081.1:c.*936A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507722.1:n.*936A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828066"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 333,
          "referenceAllele": "A",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683181.1:n.333A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828165"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1152,
          "referenceAllele": "A",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683305.1:c.916A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508043.1:p.Asn306Asp",
        "hgvsWellDefined": "ENSP00000508043.1:p.Asn306Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828286"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 856,
          "referenceAllele": "A",
          "start": 855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683448.1:c.604A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506931.1:p.Asn202Asp",
        "hgvsWellDefined": "ENSP00000506931.1:p.Asn202Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828425"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1118,
          "referenceAllele": "A",
          "start": 1117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683478.1:c.*450A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507793.1:n.*450A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828453"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1163,
          "endIntronDirection": "+",
          "endIntronOffset": 1414,
          "referenceAllele": "A",
          "start": 1163,
          "startIntronDirection": "+",
          "startIntronOffset": 1413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683483.1:c.972+1414A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507719.1:n.972+1414A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828457"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 878,
          "referenceAllele": "A",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683751.1:c.604A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506944.1:p.Asn202Asp",
        "hgvsWellDefined": "ENSP00000506944.1:p.Asn202Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828722"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1479,
          "referenceAllele": "A",
          "start": 1478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684036.1:c.916A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507276.1:p.Asn306Asp",
        "hgvsWellDefined": "ENSP00000507276.1:p.Asn306Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828997"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 734,
          "referenceAllele": "A",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684129.1:c.-120A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507174.1:n.-120A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829087"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1474,
          "referenceAllele": "A",
          "start": 1473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684209.1:n.1474A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829166"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1305,
          "referenceAllele": "A",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684296.1:c.1099A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507740.1:p.Asn367Asp",
        "hgvsWellDefined": "ENSP00000507740.1:p.Asn367Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829252"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1209,
          "referenceAllele": "A",
          "start": 1208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684505.1:c.1048A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508237.1:p.Asn350Asp",
        "hgvsWellDefined": "ENSP00000508237.1:p.Asn350Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829459"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1290,
          "referenceAllele": "A",
          "start": 1289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684552.1:c.1099A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506899.1:p.Asn367Asp",
        "hgvsWellDefined": "ENSP00000506899.1:p.Asn367Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829505"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2827,
          "referenceAllele": "A",
          "start": 2826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684611.1:n.2827A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829563"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1290,
          "referenceAllele": "A",
          "start": 1289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684622.1:c.1099A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507546.1:p.Asn367Asp",
        "hgvsWellDefined": "ENSP00000507546.1:p.Asn367Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829574"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1668,
          "referenceAllele": "A",
          "start": 1667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684627.1:c.916A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507471.1:p.Asn306Asp",
        "hgvsWellDefined": "ENSP00000507471.1:p.Asn306Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829579"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1022,
          "endIntronDirection": "+",
          "endIntronOffset": 3470,
          "referenceAllele": "A",
          "start": 1022,
          "startIntronDirection": "+",
          "startIntronOffset": 3469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684641.1:c.831+3470A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507642.1:n.831+3470A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829592"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1290,
          "referenceAllele": "A",
          "start": 1289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684675.1:c.1099A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506934.1:p.Asn367Asp",
        "hgvsWellDefined": "ENSP00000506934.1:p.Asn367Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829626"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1168,
          "referenceAllele": "A",
          "start": 1167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684749.1:n.1168A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829699"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1260,
          "referenceAllele": "A",
          "start": 1259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000511912.6:c.1099A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426638.1:p.Asn367Asp",
        "hgvsWellDefined": "ENSP00000426638.1:p.Asn367Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758258",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000511912.6:c.1099A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004453.4:c.1099A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000426638.1:p.Asn367Asp"
          },
          "RefSeq": {
            "hgvs": "NP_004444.2:p.Asn367Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1076,
          "referenceAllele": "A",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000307738.5:c.958A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303552.5:p.Asn320Asp",
        "hgvsWellDefined": "ENSP00000303552.5:p.Asn320Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255936"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 86,
          "endIntronDirection": "-",
          "endIntronOffset": 4309,
          "referenceAllele": "A",
          "start": 86,
          "startIntronDirection": "-",
          "startIntronOffset": 4310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000506422.1:n.87-4310A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS337962"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1431,
          "referenceAllele": "A",
          "start": 1430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000511912.5:c.1099A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426638.1:p.Asn367Asp",
        "hgvsWellDefined": "ENSP00000426638.1:p.Asn367Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342075"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826593591",
      "coordinates": [
        {
          "allele": "G",
          "end": 1314,
          "referenceAllele": "A",
          "start": 1313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_001281737.1:c.958A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268666.1:p.Asn320Asp",
        "hgvsWellDefined": "NP_001268666.1:p.Asn320Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021701"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826594719",
      "coordinates": [
        {
          "allele": "G",
          "end": 1011,
          "referenceAllele": "A",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_001281738.1:c.916A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268667.1:p.Asn306Asp",
        "hgvsWellDefined": "NP_001268667.1:p.Asn306Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021702"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573234723",
      "coordinates": [
        {
          "allele": "G",
          "end": 1455,
          "referenceAllele": "A",
          "start": 1454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_004453.3:c.1099A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004444.2:p.Asn367Asp",
        "hgvsWellDefined": "NP_004444.2:p.Asn367Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029615"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1131,
          "referenceAllele": "A",
          "start": 1130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "XM_024453935.1:c.916A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309703.1:p.Asn306Asp",
        "hgvsWellDefined": "XP_024309703.1:p.Asn306Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573234723",
      "coordinates": [
        {
          "allele": "G",
          "end": 1260,
          "referenceAllele": "A",
          "start": 1259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_004453.4:c.1099A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004444.2:p.Asn367Asp",
        "hgvsWellDefined": "NP_004444.2:p.Asn367Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696142",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000511912.6:c.1099A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004453.4:c.1099A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000426638.1:p.Asn367Asp"
          },
          "RefSeq": {
            "hgvs": "NP_004444.2:p.Asn367Asp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826593591",
      "coordinates": [
        {
          "allele": "G",
          "end": 1119,
          "referenceAllele": "A",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_001281737.2:c.958A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268666.1:p.Asn320Asp",
        "hgvsWellDefined": "NP_001268666.1:p.Asn320Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715722"
    }
  ],
  "type": "nucleotide"
}