{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3122534",
  "communityStandardTitle": [
    "NM_004453.4(ETFDH):c.998A>G (p.Tyr333Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2834383[alleleid]",
        "alleleId": 2834383,
        "preferredName": "NM_004453.4(ETFDH):c.998A>G (p.Tyr333Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2675110",
        "RCV": [
          "RCV003476372"
        ],
        "variationId": 2675110
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-159620164-A-G",
        "id": "4-159620164-A-G",
        "variant": "4:159620164 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.159620164A>G?assembly=hg19",
        "id": "chr4:g.159620164A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.158699012A>G?assembly=hg38",
        "id": "chr4:g.158699012A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/781531865",
        "rs": 781531865
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-159620164-A-G?dataset=gnomad_r2_1",
        "id": "4-159620164-A-G",
        "variant": "4:159620164 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-158699012-A-G?dataset=gnomad_r4",
        "id": "4-158699012-A-G",
        "variant": "4:158699012 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 158699012,
          "referenceAllele": "A",
          "start": 158699011
        }
      ],
      "hgvs": [
        "NC_000004.12:g.158699012A>G",
        "CM000666.2:g.158699012A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 159620164,
          "referenceAllele": "A",
          "start": 159620163
        }
      ],
      "hgvs": [
        "NC_000004.11:g.159620164A>G",
        "CM000666.1:g.159620164A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 159839614,
          "referenceAllele": "A",
          "start": 159839613
        }
      ],
      "hgvs": [
        "NC_000004.10:g.159839614A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 31671,
          "referenceAllele": "A",
          "start": 31670
        }
      ],
      "hgvs": [
        "NG_007078.2:g.31671A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000458"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2534,
          "referenceAllele": "A",
          "start": 2533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000681978.1:n.2534A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826978"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2030,
          "referenceAllele": "A",
          "start": 2029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682178.1:n.2030A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827175"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1150,
          "referenceAllele": "A",
          "start": 1149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682345.1:c.*698A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508122.1:n.*698A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827337"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1329,
          "referenceAllele": "A",
          "start": 1328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682452.1:n.1329A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827442"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1048,
          "referenceAllele": "A",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682456.1:c.857A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508240.1:p.Tyr286Cys",
        "hgvsWellDefined": "ENSP00000508240.1:p.Tyr286Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827446"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1781,
          "referenceAllele": "A",
          "start": 1780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682566.1:n.1781A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827556"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1310,
          "referenceAllele": "A",
          "start": 1309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682613.1:n.1310A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827602"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 711,
          "referenceAllele": "A",
          "start": 710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682734.1:c.-176A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507860.1:n.-176A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827723"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1035,
          "referenceAllele": "A",
          "start": 1034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682820.1:n.1035A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827808"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1157,
          "endIntronDirection": "+",
          "endIntronOffset": 1313,
          "referenceAllele": "A",
          "start": 1157,
          "startIntronDirection": "+",
          "startIntronOffset": 1312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683004.1:c.*809+1313A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506936.1:n.*809+1313A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827991"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1040,
          "referenceAllele": "A",
          "start": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683079.1:c.*378A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507296.1:n.*378A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828064"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1122,
          "referenceAllele": "A",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683081.1:c.*835A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507722.1:n.*835A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828066"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 232,
          "referenceAllele": "A",
          "start": 231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683181.1:n.232A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828165"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1051,
          "referenceAllele": "A",
          "start": 1050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683305.1:c.815A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508043.1:p.Tyr272Cys",
        "hgvsWellDefined": "ENSP00000508043.1:p.Tyr272Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828286"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 755,
          "referenceAllele": "A",
          "start": 754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683448.1:c.503A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506931.1:p.Tyr168Cys",
        "hgvsWellDefined": "ENSP00000506931.1:p.Tyr168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828425"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1017,
          "referenceAllele": "A",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683478.1:c.*349A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507793.1:n.*349A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828453"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1163,
          "endIntronDirection": "+",
          "endIntronOffset": 1313,
          "referenceAllele": "A",
          "start": 1163,
          "startIntronDirection": "+",
          "startIntronOffset": 1312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683483.1:c.972+1313A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507719.1:n.972+1313A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828457"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 777,
          "referenceAllele": "A",
          "start": 776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683751.1:c.503A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506944.1:p.Tyr168Cys",
        "hgvsWellDefined": "ENSP00000506944.1:p.Tyr168Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828722"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1378,
          "referenceAllele": "A",
          "start": 1377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684036.1:c.815A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507276.1:p.Tyr272Cys",
        "hgvsWellDefined": "ENSP00000507276.1:p.Tyr272Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828997"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 633,
          "referenceAllele": "A",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684129.1:c.-221A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507174.1:n.-221A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829087"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1373,
          "referenceAllele": "A",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684209.1:n.1373A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829166"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1204,
          "referenceAllele": "A",
          "start": 1203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684296.1:c.998A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507740.1:p.Tyr333Cys",
        "hgvsWellDefined": "ENSP00000507740.1:p.Tyr333Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829252"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1108,
          "referenceAllele": "A",
          "start": 1107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684505.1:c.947A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508237.1:p.Tyr316Cys",
        "hgvsWellDefined": "ENSP00000508237.1:p.Tyr316Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829459"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1189,
          "referenceAllele": "A",
          "start": 1188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684552.1:c.998A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506899.1:p.Tyr333Cys",
        "hgvsWellDefined": "ENSP00000506899.1:p.Tyr333Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829505"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2726,
          "referenceAllele": "A",
          "start": 2725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684611.1:n.2726A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829563"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1189,
          "referenceAllele": "A",
          "start": 1188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684622.1:c.998A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507546.1:p.Tyr333Cys",
        "hgvsWellDefined": "ENSP00000507546.1:p.Tyr333Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829574"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1567,
          "referenceAllele": "A",
          "start": 1566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684627.1:c.815A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507471.1:p.Tyr272Cys",
        "hgvsWellDefined": "ENSP00000507471.1:p.Tyr272Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829579"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1022,
          "endIntronDirection": "+",
          "endIntronOffset": 3369,
          "referenceAllele": "A",
          "start": 1022,
          "startIntronDirection": "+",
          "startIntronOffset": 3368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684641.1:c.831+3369A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507642.1:n.831+3369A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829592"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1189,
          "referenceAllele": "A",
          "start": 1188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684675.1:c.998A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506934.1:p.Tyr333Cys",
        "hgvsWellDefined": "ENSP00000506934.1:p.Tyr333Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829626"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1067,
          "referenceAllele": "A",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684749.1:n.1067A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829699"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1159,
          "referenceAllele": "A",
          "start": 1158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000511912.6:c.998A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426638.1:p.Tyr333Cys",
        "hgvsWellDefined": "ENSP00000426638.1:p.Tyr333Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758258",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000511912.6:c.998A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004453.4:c.998A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000426638.1:p.Tyr333Cys"
          },
          "RefSeq": {
            "hgvs": "NP_004444.2:p.Tyr333Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 975,
          "referenceAllele": "A",
          "start": 974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000307738.5:c.857A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303552.5:p.Tyr286Cys",
        "hgvsWellDefined": "ENSP00000303552.5:p.Tyr286Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255936"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 86,
          "endIntronDirection": "-",
          "endIntronOffset": 4410,
          "referenceAllele": "A",
          "start": 86,
          "startIntronDirection": "-",
          "startIntronOffset": 4411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000506422.1:n.87-4411A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS337962"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1330,
          "referenceAllele": "A",
          "start": 1329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000511912.5:c.998A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426638.1:p.Tyr333Cys",
        "hgvsWellDefined": "ENSP00000426638.1:p.Tyr333Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342075"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826593525",
      "coordinates": [
        {
          "allele": "G",
          "end": 1213,
          "referenceAllele": "A",
          "start": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_001281737.1:c.857A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268666.1:p.Tyr286Cys",
        "hgvsWellDefined": "NP_001268666.1:p.Tyr286Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021701"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826594662",
      "coordinates": [
        {
          "allele": "G",
          "end": 910,
          "referenceAllele": "A",
          "start": 909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_001281738.1:c.815A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268667.1:p.Tyr272Cys",
        "hgvsWellDefined": "NP_001268667.1:p.Tyr272Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021702"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741911703",
      "coordinates": [
        {
          "allele": "G",
          "end": 1354,
          "referenceAllele": "A",
          "start": 1353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_004453.3:c.998A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004444.2:p.Tyr333Cys",
        "hgvsWellDefined": "NP_004444.2:p.Tyr333Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029615"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1030,
          "referenceAllele": "A",
          "start": 1029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "XM_024453935.1:c.815A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309703.1:p.Tyr272Cys",
        "hgvsWellDefined": "XP_024309703.1:p.Tyr272Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741911703",
      "coordinates": [
        {
          "allele": "G",
          "end": 1159,
          "referenceAllele": "A",
          "start": 1158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_004453.4:c.998A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004444.2:p.Tyr333Cys",
        "hgvsWellDefined": "NP_004444.2:p.Tyr333Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696142",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000511912.6:c.998A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004453.4:c.998A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000426638.1:p.Tyr333Cys"
          },
          "RefSeq": {
            "hgvs": "NP_004444.2:p.Tyr333Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826593525",
      "coordinates": [
        {
          "allele": "G",
          "end": 1018,
          "referenceAllele": "A",
          "start": 1017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_001281737.2:c.857A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268666.1:p.Tyr286Cys",
        "hgvsWellDefined": "NP_001268666.1:p.Tyr286Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715722"
    }
  ],
  "type": "nucleotide"
}