{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA358560742",
  "communityStandardTitle": [
    "NM_004453.4(ETFDH):c.731T>C (p.Phe244Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=890355[alleleid]",
        "alleleId": 890355,
        "preferredName": "NM_004453.4(ETFDH):c.731T>C (p.Phe244Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/902803",
        "RCV": [
          "RCV001149621",
          "RCV002275296"
        ],
        "variationId": 902803
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.159616695T>C?assembly=hg19",
        "id": "chr4:g.159616695T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.158695543T>C?assembly=hg38",
        "id": "chr4:g.158695543T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1448673327",
        "rs": 1448673327
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-159616695-T-C?dataset=gnomad_r2_1",
        "id": "4-159616695-T-C",
        "variant": "4:159616695 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-158695543-T-C?dataset=gnomad_r3",
        "id": "4-158695543-T-C",
        "variant": "4:158695543 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-158695543-T-C?dataset=gnomad_r4",
        "id": "4-158695543-T-C",
        "variant": "4:158695543 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 158695543,
          "referenceAllele": "T",
          "start": 158695542
        }
      ],
      "hgvs": [
        "NC_000004.12:g.158695543T>C",
        "CM000666.2:g.158695543T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 159616695,
          "referenceAllele": "T",
          "start": 159616694
        }
      ],
      "hgvs": [
        "NC_000004.11:g.159616695T>C",
        "CM000666.1:g.159616695T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 159836145,
          "referenceAllele": "T",
          "start": 159836144
        }
      ],
      "hgvs": [
        "NC_000004.10:g.159836145T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 28202,
          "referenceAllele": "T",
          "start": 28201
        }
      ],
      "hgvs": [
        "NG_007078.2:g.28202T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000458"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 504,
          "referenceAllele": "T",
          "start": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000507475.6:n.504T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825530"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 980,
          "referenceAllele": "T",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000681978.1:n.980T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826978"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1763,
          "referenceAllele": "T",
          "start": 1762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682178.1:n.1763T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827175"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 883,
          "referenceAllele": "T",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682345.1:c.*431T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508122.1:n.*431T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827337"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1062,
          "referenceAllele": "T",
          "start": 1061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682452.1:n.1062T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827442"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 922,
          "referenceAllele": "T",
          "start": 921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682456.1:c.731T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508240.1:p.Phe244Ser",
        "hgvsWellDefined": "ENSP00000508240.1:p.Phe244Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827446"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 227,
          "referenceAllele": "T",
          "start": 226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682566.1:n.227T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827556"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 922,
          "referenceAllele": "T",
          "start": 921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682601.1:n.922T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827591"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1043,
          "referenceAllele": "T",
          "start": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682613.1:n.1043T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827602"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 444,
          "referenceAllele": "T",
          "start": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682734.1:c.-443T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507860.1:n.-443T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827723"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 768,
          "referenceAllele": "T",
          "start": 767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682820.1:n.768T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827808"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 916,
          "referenceAllele": "T",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683004.1:c.*568T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506936.1:n.*568T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827991"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 773,
          "referenceAllele": "T",
          "start": 772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683079.1:c.*111T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507296.1:n.*111T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828064"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 855,
          "referenceAllele": "T",
          "start": 854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683081.1:c.*568T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507722.1:n.*568T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828066"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 784,
          "referenceAllele": "T",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683305.1:c.548T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508043.1:p.Phe183Ser",
        "hgvsWellDefined": "ENSP00000508043.1:p.Phe183Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828286"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 488,
          "referenceAllele": "T",
          "start": 487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683448.1:c.236T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506931.1:p.Phe79Ser",
        "hgvsWellDefined": "ENSP00000506931.1:p.Phe79Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828425"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 779,
          "referenceAllele": "T",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683478.1:c.*111T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507793.1:n.*111T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828453"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 922,
          "referenceAllele": "T",
          "start": 921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683483.1:c.731T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507719.1:p.Phe244Ser",
        "hgvsWellDefined": "ENSP00000507719.1:p.Phe244Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828457"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 510,
          "referenceAllele": "T",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683751.1:c.236T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506944.1:p.Phe79Ser",
        "hgvsWellDefined": "ENSP00000506944.1:p.Phe79Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828722"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1111,
          "referenceAllele": "T",
          "start": 1110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684036.1:c.548T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507276.1:p.Phe183Ser",
        "hgvsWellDefined": "ENSP00000507276.1:p.Phe183Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828997"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 366,
          "referenceAllele": "T",
          "start": 365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684129.1:c.-488T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507174.1:n.-488T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829087"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1106,
          "referenceAllele": "T",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684209.1:n.1106T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829166"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 937,
          "referenceAllele": "T",
          "start": 936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684296.1:c.731T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507740.1:p.Phe244Ser",
        "hgvsWellDefined": "ENSP00000507740.1:p.Phe244Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829252"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 841,
          "referenceAllele": "T",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684505.1:c.680T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508237.1:p.Phe227Ser",
        "hgvsWellDefined": "ENSP00000508237.1:p.Phe227Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829459"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 922,
          "referenceAllele": "T",
          "start": 921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684552.1:c.731T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506899.1:p.Phe244Ser",
        "hgvsWellDefined": "ENSP00000506899.1:p.Phe244Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829505"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2459,
          "referenceAllele": "T",
          "start": 2458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684611.1:n.2459T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829563"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 922,
          "referenceAllele": "T",
          "start": 921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684622.1:c.731T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507546.1:p.Phe244Ser",
        "hgvsWellDefined": "ENSP00000507546.1:p.Phe244Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829574"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1300,
          "referenceAllele": "T",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684627.1:c.548T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507471.1:p.Phe183Ser",
        "hgvsWellDefined": "ENSP00000507471.1:p.Phe183Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829579"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 922,
          "referenceAllele": "T",
          "start": 921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684641.1:c.731T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507642.1:p.Phe244Ser",
        "hgvsWellDefined": "ENSP00000507642.1:p.Phe244Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829592"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 922,
          "referenceAllele": "T",
          "start": 921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684675.1:c.731T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506934.1:p.Phe244Ser",
        "hgvsWellDefined": "ENSP00000506934.1:p.Phe244Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829626"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 800,
          "referenceAllele": "T",
          "start": 799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684749.1:n.800T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829699"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 892,
          "referenceAllele": "T",
          "start": 891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000511912.6:c.731T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426638.1:p.Phe244Ser",
        "hgvsWellDefined": "ENSP00000426638.1:p.Phe244Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758258",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000511912.6:c.731T>C"
          },
          "RefSeq": {
            "hgvs": "NM_004453.4:c.731T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000426638.1:p.Phe244Ser"
          },
          "RefSeq": {
            "hgvs": "NP_004444.2:p.Phe244Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 708,
          "referenceAllele": "T",
          "start": 707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000307738.5:c.590T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303552.5:p.Phe197Ser",
        "hgvsWellDefined": "ENSP00000303552.5:p.Phe197Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255936"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 86,
          "endIntronDirection": "-",
          "endIntronOffset": 7879,
          "referenceAllele": "T",
          "start": 86,
          "startIntronDirection": "-",
          "startIntronOffset": 7880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000506422.1:n.87-7880T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS337962"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 510,
          "referenceAllele": "T",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000507475.5:c.236T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422735.1:p.Phe79Ser",
        "hgvsWellDefined": "ENSP00000422735.1:p.Phe79Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS338754"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1063,
          "referenceAllele": "T",
          "start": 1062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000511912.5:c.731T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426638.1:p.Phe244Ser",
        "hgvsWellDefined": "ENSP00000426638.1:p.Phe244Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342075"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826593368",
      "coordinates": [
        {
          "allele": "C",
          "end": 946,
          "referenceAllele": "T",
          "start": 945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_001281737.1:c.590T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268666.1:p.Phe197Ser",
        "hgvsWellDefined": "NP_001268666.1:p.Phe197Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021701"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826594479",
      "coordinates": [
        {
          "allele": "C",
          "end": 643,
          "referenceAllele": "T",
          "start": 642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_001281738.1:c.548T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268667.1:p.Phe183Ser",
        "hgvsWellDefined": "NP_001268667.1:p.Phe183Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021702"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139703156",
      "coordinates": [
        {
          "allele": "C",
          "end": 1087,
          "referenceAllele": "T",
          "start": 1086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_004453.3:c.731T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004444.2:p.Phe244Ser",
        "hgvsWellDefined": "NP_004444.2:p.Phe244Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029615"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 763,
          "referenceAllele": "T",
          "start": 762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "XM_024453935.1:c.548T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309703.1:p.Phe183Ser",
        "hgvsWellDefined": "XP_024309703.1:p.Phe183Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139703156",
      "coordinates": [
        {
          "allele": "C",
          "end": 892,
          "referenceAllele": "T",
          "start": 891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_004453.4:c.731T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004444.2:p.Phe244Ser",
        "hgvsWellDefined": "NP_004444.2:p.Phe244Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696142",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000511912.6:c.731T>C"
          },
          "RefSeq": {
            "hgvs": "NM_004453.4:c.731T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000426638.1:p.Phe244Ser"
          },
          "RefSeq": {
            "hgvs": "NP_004444.2:p.Phe244Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826593368",
      "coordinates": [
        {
          "allele": "C",
          "end": 751,
          "referenceAllele": "T",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_001281737.2:c.590T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268666.1:p.Phe197Ser",
        "hgvsWellDefined": "NP_001268666.1:p.Phe197Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715722"
    }
  ],
  "type": "nucleotide"
}