{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA358563000",
  "communityStandardTitle": [
    "NM_004453.4(ETFDH):c.1227A>C (p.Leu409Phe)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1059991[alleleid]",
        "alleleId": 1059991,
        "preferredName": "NM_004453.4(ETFDH):c.1227A>C (p.Leu409Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1069043",
        "RCV": [
          "RCV001380775",
          "RCV001831378"
        ],
        "variationId": 1069043
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.159624685A>C?assembly=hg19",
        "id": "chr4:g.159624685A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.158703533A>C?assembly=hg38",
        "id": "chr4:g.158703533A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1200031596",
        "rs": 1200031596
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-158703533-A-C?dataset=gnomad_r4",
        "id": "4-158703533-A-C",
        "variant": "4:158703533 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 158703533,
          "referenceAllele": "A",
          "start": 158703532
        }
      ],
      "hgvs": [
        "NC_000004.12:g.158703533A>C",
        "CM000666.2:g.158703533A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 159624685,
          "referenceAllele": "A",
          "start": 159624684
        }
      ],
      "hgvs": [
        "NC_000004.11:g.159624685A>C",
        "CM000666.1:g.159624685A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 159844135,
          "referenceAllele": "A",
          "start": 159844134
        }
      ],
      "hgvs": [
        "NC_000004.10:g.159844135A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 36192,
          "referenceAllele": "A",
          "start": 36191
        }
      ],
      "hgvs": [
        "NG_007078.2:g.36192A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000458"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2763,
          "referenceAllele": "A",
          "start": 2762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000681978.1:n.2763A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826978"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2259,
          "referenceAllele": "A",
          "start": 2258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682178.1:n.2259A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827175"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1379,
          "referenceAllele": "A",
          "start": 1378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682345.1:c.*927A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508122.1:n.*927A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827337"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1558,
          "referenceAllele": "A",
          "start": 1557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682452.1:n.1558A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827442"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1277,
          "referenceAllele": "A",
          "start": 1276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682456.1:c.1086A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508240.1:p.Leu362Phe",
        "hgvsWellDefined": "ENSP00000508240.1:p.Leu362Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827446"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2010,
          "referenceAllele": "A",
          "start": 2009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682566.1:n.2010A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827556"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1539,
          "referenceAllele": "A",
          "start": 1538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682613.1:n.1539A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827602"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 940,
          "referenceAllele": "A",
          "start": 939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682734.1:c.54A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507860.1:p.Leu18Phe",
        "hgvsWellDefined": "ENSP00000507860.1:p.Leu18Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827723"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1264,
          "referenceAllele": "A",
          "start": 1263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682820.1:n.1264A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827808"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1268,
          "referenceAllele": "A",
          "start": 1267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683004.1:c.*920A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506936.1:n.*920A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827991"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1314,
          "referenceAllele": "A",
          "start": 1313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683079.1:c.*652A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507296.1:n.*652A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828064"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1351,
          "referenceAllele": "A",
          "start": 1350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683081.1:c.*1064A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507722.1:n.*1064A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828066"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 506,
          "referenceAllele": "A",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683181.1:n.506A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828165"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3553,
          "referenceAllele": "A",
          "start": 3552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683209.1:n.3553A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828191"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1280,
          "referenceAllele": "A",
          "start": 1279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683305.1:c.1044A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508043.1:p.Leu348Phe",
        "hgvsWellDefined": "ENSP00000508043.1:p.Leu348Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828286"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1029,
          "referenceAllele": "A",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683448.1:c.*147A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506931.1:n.*147A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828425"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1246,
          "referenceAllele": "A",
          "start": 1245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683478.1:c.*578A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507793.1:n.*578A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828453"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1274,
          "referenceAllele": "A",
          "start": 1273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683483.1:c.1083A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507719.1:p.Leu361Phe",
        "hgvsWellDefined": "ENSP00000507719.1:p.Leu361Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828457"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 941,
          "referenceAllele": "A",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683622.1:n.941A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828594"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1006,
          "referenceAllele": "A",
          "start": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683751.1:c.732A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506944.1:p.Leu244Phe",
        "hgvsWellDefined": "ENSP00000506944.1:p.Leu244Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828722"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1607,
          "referenceAllele": "A",
          "start": 1606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684036.1:c.1044A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507276.1:p.Leu348Phe",
        "hgvsWellDefined": "ENSP00000507276.1:p.Leu348Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828997"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 907,
          "referenceAllele": "A",
          "start": 906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684129.1:c.54A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507174.1:p.Leu18Phe",
        "hgvsWellDefined": "ENSP00000507174.1:p.Leu18Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829087"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1602,
          "referenceAllele": "A",
          "start": 1601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684209.1:n.1602A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829166"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1478,
          "referenceAllele": "A",
          "start": 1477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684296.1:c.*147A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507740.1:n.*147A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829252"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1337,
          "referenceAllele": "A",
          "start": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684505.1:c.1176A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508237.1:p.Leu392Phe",
        "hgvsWellDefined": "ENSP00000508237.1:p.Leu392Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829459"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1463,
          "referenceAllele": "A",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684552.1:c.*147A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506899.1:n.*147A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829505"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2955,
          "referenceAllele": "A",
          "start": 2954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684611.1:n.2955A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829563"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1418,
          "referenceAllele": "A",
          "start": 1417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684622.1:c.1227A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507546.1:p.Leu409Phe",
        "hgvsWellDefined": "ENSP00000507546.1:p.Leu409Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829574"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1796,
          "referenceAllele": "A",
          "start": 1795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684627.1:c.1044A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507471.1:p.Leu348Phe",
        "hgvsWellDefined": "ENSP00000507471.1:p.Leu348Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829579"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1133,
          "referenceAllele": "A",
          "start": 1132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684641.1:c.942A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507642.1:p.Leu314Phe",
        "hgvsWellDefined": "ENSP00000507642.1:p.Leu314Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829592"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1459,
          "referenceAllele": "A",
          "start": 1458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684675.1:c.*74A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506934.1:n.*74A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829626"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1296,
          "referenceAllele": "A",
          "start": 1295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684749.1:n.1296A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829699"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1388,
          "referenceAllele": "A",
          "start": 1387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000511912.6:c.1227A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426638.1:p.Leu409Phe",
        "hgvsWellDefined": "ENSP00000426638.1:p.Leu409Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758258",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000511912.6:c.1227A>C"
          },
          "RefSeq": {
            "hgvs": "NM_004453.4:c.1227A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000426638.1:p.Leu409Phe"
          },
          "RefSeq": {
            "hgvs": "NP_004444.2:p.Leu409Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1204,
          "referenceAllele": "A",
          "start": 1203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000307738.5:c.1086A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303552.5:p.Leu362Phe",
        "hgvsWellDefined": "ENSP00000303552.5:p.Leu362Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255936"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 197,
          "referenceAllele": "A",
          "start": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000506422.1:n.197A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS337962"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1559,
          "referenceAllele": "A",
          "start": 1558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000511912.5:c.1227A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426638.1:p.Leu409Phe",
        "hgvsWellDefined": "ENSP00000426638.1:p.Leu409Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342075"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826593645",
      "coordinates": [
        {
          "allele": "C",
          "end": 1442,
          "referenceAllele": "A",
          "start": 1441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_001281737.1:c.1086A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268666.1:p.Leu362Phe",
        "hgvsWellDefined": "NP_001268666.1:p.Leu362Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021701"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826594768",
      "coordinates": [
        {
          "allele": "C",
          "end": 1139,
          "referenceAllele": "A",
          "start": 1138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_001281738.1:c.1044A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268667.1:p.Leu348Phe",
        "hgvsWellDefined": "NP_001268667.1:p.Leu348Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021702"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499267865",
      "coordinates": [
        {
          "allele": "C",
          "end": 1583,
          "referenceAllele": "A",
          "start": 1582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_004453.3:c.1227A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004444.2:p.Leu409Phe",
        "hgvsWellDefined": "NP_004444.2:p.Leu409Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029615"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1259,
          "referenceAllele": "A",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "XM_024453935.1:c.1044A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309703.1:p.Leu348Phe",
        "hgvsWellDefined": "XP_024309703.1:p.Leu348Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499267865",
      "coordinates": [
        {
          "allele": "C",
          "end": 1388,
          "referenceAllele": "A",
          "start": 1387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_004453.4:c.1227A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004444.2:p.Leu409Phe",
        "hgvsWellDefined": "NP_004444.2:p.Leu409Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696142",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000511912.6:c.1227A>C"
          },
          "RefSeq": {
            "hgvs": "NM_004453.4:c.1227A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000426638.1:p.Leu409Phe"
          },
          "RefSeq": {
            "hgvs": "NP_004444.2:p.Leu409Phe"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826593645",
      "coordinates": [
        {
          "allele": "C",
          "end": 1247,
          "referenceAllele": "A",
          "start": 1246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_001281737.2:c.1086A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268666.1:p.Leu362Phe",
        "hgvsWellDefined": "NP_001268666.1:p.Leu362Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715722"
    }
  ],
  "type": "nucleotide"
}