{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3122443",
  "communityStandardTitle": [
    "NM_004453.4(ETFDH):c.725C>T (p.Thr242Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2959964[alleleid]",
        "alleleId": 2959964,
        "preferredName": "NM_004453.4(ETFDH):c.725C>T (p.Thr242Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2790200",
        "RCV": [
          "RCV003624697"
        ],
        "variationId": 2790200
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-159616689-C-T",
        "id": "4-159616689-C-T",
        "variant": "4:159616689 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.159616689C>T?assembly=hg19",
        "id": "chr4:g.159616689C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.158695537C>T?assembly=hg38",
        "id": "chr4:g.158695537C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/777646291",
        "rs": 777646291
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-159616689-C-T?dataset=gnomad_r2_1",
        "id": "4-159616689-C-T",
        "variant": "4:159616689 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-158695537-C-T?dataset=gnomad_r4",
        "id": "4-158695537-C-T",
        "variant": "4:158695537 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 158695537,
          "referenceAllele": "C",
          "start": 158695536
        }
      ],
      "hgvs": [
        "NC_000004.12:g.158695537C>T",
        "CM000666.2:g.158695537C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 159616689,
          "referenceAllele": "C",
          "start": 159616688
        }
      ],
      "hgvs": [
        "NC_000004.11:g.159616689C>T",
        "CM000666.1:g.159616689C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 159836139,
          "referenceAllele": "C",
          "start": 159836138
        }
      ],
      "hgvs": [
        "NC_000004.10:g.159836139C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 28196,
          "referenceAllele": "C",
          "start": 28195
        }
      ],
      "hgvs": [
        "NG_007078.2:g.28196C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000458"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 498,
          "referenceAllele": "C",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000507475.6:n.498C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 974,
          "referenceAllele": "C",
          "start": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000681978.1:n.974C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826978"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1757,
          "referenceAllele": "C",
          "start": 1756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682178.1:n.1757C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827175"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 877,
          "referenceAllele": "C",
          "start": 876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682345.1:c.*425C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508122.1:n.*425C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827337"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1056,
          "referenceAllele": "C",
          "start": 1055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682452.1:n.1056C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827442"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 916,
          "referenceAllele": "C",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682456.1:c.725C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508240.1:p.Thr242Ile",
        "hgvsWellDefined": "ENSP00000508240.1:p.Thr242Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827446"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 221,
          "referenceAllele": "C",
          "start": 220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682566.1:n.221C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827556"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 916,
          "referenceAllele": "C",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682601.1:n.916C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827591"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1037,
          "referenceAllele": "C",
          "start": 1036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682613.1:n.1037C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827602"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 438,
          "referenceAllele": "C",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682734.1:c.-449C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507860.1:n.-449C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827723"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 762,
          "referenceAllele": "C",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682820.1:n.762C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827808"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 910,
          "referenceAllele": "C",
          "start": 909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683004.1:c.*562C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506936.1:n.*562C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827991"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 767,
          "referenceAllele": "C",
          "start": 766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683079.1:c.*105C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507296.1:n.*105C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828064"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 849,
          "referenceAllele": "C",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683081.1:c.*562C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507722.1:n.*562C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828066"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 778,
          "referenceAllele": "C",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683305.1:c.542C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508043.1:p.Thr181Ile",
        "hgvsWellDefined": "ENSP00000508043.1:p.Thr181Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828286"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 482,
          "referenceAllele": "C",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683448.1:c.230C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506931.1:p.Thr77Ile",
        "hgvsWellDefined": "ENSP00000506931.1:p.Thr77Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 773,
          "referenceAllele": "C",
          "start": 772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683478.1:c.*105C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507793.1:n.*105C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828453"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 916,
          "referenceAllele": "C",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683483.1:c.725C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507719.1:p.Thr242Ile",
        "hgvsWellDefined": "ENSP00000507719.1:p.Thr242Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828457"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 504,
          "referenceAllele": "C",
          "start": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683751.1:c.230C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506944.1:p.Thr77Ile",
        "hgvsWellDefined": "ENSP00000506944.1:p.Thr77Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828722"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1105,
          "referenceAllele": "C",
          "start": 1104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684036.1:c.542C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507276.1:p.Thr181Ile",
        "hgvsWellDefined": "ENSP00000507276.1:p.Thr181Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828997"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 360,
          "referenceAllele": "C",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684129.1:c.-494C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507174.1:n.-494C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829087"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1100,
          "referenceAllele": "C",
          "start": 1099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684209.1:n.1100C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829166"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 931,
          "referenceAllele": "C",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684296.1:c.725C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507740.1:p.Thr242Ile",
        "hgvsWellDefined": "ENSP00000507740.1:p.Thr242Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829252"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 835,
          "referenceAllele": "C",
          "start": 834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684505.1:c.674C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508237.1:p.Thr225Ile",
        "hgvsWellDefined": "ENSP00000508237.1:p.Thr225Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829459"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 916,
          "referenceAllele": "C",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684552.1:c.725C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506899.1:p.Thr242Ile",
        "hgvsWellDefined": "ENSP00000506899.1:p.Thr242Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829505"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2453,
          "referenceAllele": "C",
          "start": 2452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684611.1:n.2453C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829563"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 916,
          "referenceAllele": "C",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684622.1:c.725C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507546.1:p.Thr242Ile",
        "hgvsWellDefined": "ENSP00000507546.1:p.Thr242Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829574"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1294,
          "referenceAllele": "C",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684627.1:c.542C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507471.1:p.Thr181Ile",
        "hgvsWellDefined": "ENSP00000507471.1:p.Thr181Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829579"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 916,
          "referenceAllele": "C",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684641.1:c.725C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507642.1:p.Thr242Ile",
        "hgvsWellDefined": "ENSP00000507642.1:p.Thr242Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829592"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 916,
          "referenceAllele": "C",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684675.1:c.725C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506934.1:p.Thr242Ile",
        "hgvsWellDefined": "ENSP00000506934.1:p.Thr242Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829626"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 794,
          "referenceAllele": "C",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684749.1:n.794C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829699"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 886,
          "referenceAllele": "C",
          "start": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000511912.6:c.725C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426638.1:p.Thr242Ile",
        "hgvsWellDefined": "ENSP00000426638.1:p.Thr242Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758258",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000511912.6:c.725C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004453.4:c.725C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000426638.1:p.Thr242Ile"
          },
          "RefSeq": {
            "hgvs": "NP_004444.2:p.Thr242Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 702,
          "referenceAllele": "C",
          "start": 701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000307738.5:c.584C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303552.5:p.Thr195Ile",
        "hgvsWellDefined": "ENSP00000303552.5:p.Thr195Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255936"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 86,
          "endIntronDirection": "-",
          "endIntronOffset": 7885,
          "referenceAllele": "C",
          "start": 86,
          "startIntronDirection": "-",
          "startIntronOffset": 7886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000506422.1:n.87-7886C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS337962"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 504,
          "referenceAllele": "C",
          "start": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000507475.5:c.230C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422735.1:p.Thr77Ile",
        "hgvsWellDefined": "ENSP00000422735.1:p.Thr77Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS338754"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1057,
          "referenceAllele": "C",
          "start": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000511912.5:c.725C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426638.1:p.Thr242Ile",
        "hgvsWellDefined": "ENSP00000426638.1:p.Thr242Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342075"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826593359",
      "coordinates": [
        {
          "allele": "T",
          "end": 940,
          "referenceAllele": "C",
          "start": 939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_001281737.1:c.584C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268666.1:p.Thr195Ile",
        "hgvsWellDefined": "NP_001268666.1:p.Thr195Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021701"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826594475",
      "coordinates": [
        {
          "allele": "T",
          "end": 637,
          "referenceAllele": "C",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_001281738.1:c.542C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268667.1:p.Thr181Ile",
        "hgvsWellDefined": "NP_001268667.1:p.Thr181Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021702"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741911698",
      "coordinates": [
        {
          "allele": "T",
          "end": 1081,
          "referenceAllele": "C",
          "start": 1080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_004453.3:c.725C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004444.2:p.Thr242Ile",
        "hgvsWellDefined": "NP_004444.2:p.Thr242Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029615"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 757,
          "referenceAllele": "C",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "XM_024453935.1:c.542C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309703.1:p.Thr181Ile",
        "hgvsWellDefined": "XP_024309703.1:p.Thr181Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741911698",
      "coordinates": [
        {
          "allele": "T",
          "end": 886,
          "referenceAllele": "C",
          "start": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_004453.4:c.725C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004444.2:p.Thr242Ile",
        "hgvsWellDefined": "NP_004444.2:p.Thr242Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696142",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000511912.6:c.725C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004453.4:c.725C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000426638.1:p.Thr242Ile"
          },
          "RefSeq": {
            "hgvs": "NP_004444.2:p.Thr242Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826593359",
      "coordinates": [
        {
          "allele": "T",
          "end": 745,
          "referenceAllele": "C",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_001281737.2:c.584C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268666.1:p.Thr195Ile",
        "hgvsWellDefined": "NP_001268666.1:p.Thr195Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715722"
    }
  ],
  "type": "nucleotide"
}