{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA121815",
  "communityStandardTitle": [
    "NM_004453.4(ETFDH):c.2T>C (p.Met1Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27065[alleleid]",
        "alleleId": 27065,
        "preferredName": "NM_004453.4(ETFDH):c.2T>C (p.Met1Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12026",
        "RCV": [
          "RCV000012806",
          "RCV002512993"
        ],
        "variationId": 12026
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.159593610T>C?assembly=hg19",
        "id": "chr4:g.159593610T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.158672458T>C?assembly=hg38",
        "id": "chr4:g.158672458T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121964953",
        "rs": 121964953
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-158672458-T-C?dataset=gnomad_r4",
        "id": "4-158672458-T-C",
        "variant": "4:158672458 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 158672458,
          "referenceAllele": "T",
          "start": 158672457
        }
      ],
      "hgvs": [
        "NC_000004.12:g.158672458T>C",
        "CM000666.2:g.158672458T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 159593610,
          "referenceAllele": "T",
          "start": 159593609
        }
      ],
      "hgvs": [
        "NC_000004.11:g.159593610T>C",
        "CM000666.1:g.159593610T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 159813060,
          "referenceAllele": "T",
          "start": 159813059
        }
      ],
      "hgvs": [
        "NC_000004.10:g.159813060T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5117,
          "referenceAllele": "T",
          "start": 5116
        }
      ],
      "hgvs": [
        "NG_007078.2:g.5117T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000458"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4798,
          "referenceAllele": "A",
          "start": 4797
        }
      ],
      "hgvs": [
        "NG_033150.1:g.4798A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005461"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 253,
          "referenceAllele": "T",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000436096.3:n.253T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS824879"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 146,
          "referenceAllele": "T",
          "start": 145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000507475.6:n.146T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825530"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 491,
          "referenceAllele": "T",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000512251.6:n.491T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825589"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 334,
          "referenceAllele": "T",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682345.1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508122.1:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000508122.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827337"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 111,
          "referenceAllele": "T",
          "start": 110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682409.1:n.111T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827401"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 193,
          "referenceAllele": "T",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682456.1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508240.1:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000508240.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827446"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 193,
          "referenceAllele": "T",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682601.1:n.193T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827591"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 205,
          "referenceAllele": "T",
          "start": 204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682734.1:c.-682T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507860.1:n.-682T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827723"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 143,
          "referenceAllele": "T",
          "start": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683004.1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506936.1:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000506936.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827991"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 163,
          "referenceAllele": "T",
          "start": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683079.1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507296.1:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000507296.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828064"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 82,
          "referenceAllele": "T",
          "start": 81
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683081.1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507722.1:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000507722.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828066"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 152,
          "referenceAllele": "T",
          "start": 151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683305.1:c.-85T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508043.1:n.-85T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828286"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 130,
          "referenceAllele": "T",
          "start": 129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683448.1:c.-123T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506931.1:n.-123T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828425"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 169,
          "referenceAllele": "T",
          "start": 168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683478.1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507793.1:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000507793.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828453"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 193,
          "referenceAllele": "T",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683483.1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507719.1:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000507719.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828457"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 125,
          "referenceAllele": "T",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683750.1:n.125T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828721"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 152,
          "referenceAllele": "T",
          "start": 151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683751.1:c.-123T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506944.1:n.-123T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828722"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 152,
          "referenceAllele": "T",
          "start": 151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684036.1:c.-412T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507276.1:n.-412T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828997"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 127,
          "referenceAllele": "T",
          "start": 126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684129.1:c.-727T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507174.1:n.-727T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829087"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 208,
          "referenceAllele": "T",
          "start": 207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684296.1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507740.1:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000507740.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829252"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 163,
          "referenceAllele": "T",
          "start": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684505.1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508237.1:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000508237.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829459"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 193,
          "referenceAllele": "T",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684552.1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506899.1:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000506899.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829505"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 143,
          "referenceAllele": "T",
          "start": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684611.1:n.143T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829563"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 193,
          "referenceAllele": "T",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684622.1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507546.1:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000507546.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829574"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 183,
          "referenceAllele": "T",
          "start": 182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684627.1:c.-570T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507471.1:n.-570T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829579"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 193,
          "referenceAllele": "T",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684641.1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507642.1:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000507642.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829592"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 193,
          "referenceAllele": "T",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684675.1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506934.1:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000506934.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829626"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 163,
          "referenceAllele": "T",
          "start": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000511912.6:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426638.1:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000426638.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758258",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000511912.6:c.2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_004453.4:c.2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000426638.1:p.Met1Thr"
          },
          "RefSeq": {
            "hgvs": "NP_004444.2:p.Met1Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 120,
          "referenceAllele": "T",
          "start": 119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000307738.5:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303552.5:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000303552.5:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255936"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 143,
          "referenceAllele": "T",
          "start": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000436096.2:n.143T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS293811"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 54,
          "referenceAllele": "T",
          "start": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000506422.1:n.54T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS337962"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 152,
          "referenceAllele": "T",
          "start": 151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000507475.5:c.-123T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422735.1:n.-123T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS338754"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 143,
          "referenceAllele": "T",
          "start": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000510353.5:n.143T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS340883"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 334,
          "referenceAllele": "T",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000511912.5:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426638.1:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000426638.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342075"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 334,
          "referenceAllele": "T",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000512251.5:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425661.1:p.Met1Thr",
        "hgvsWellDefined": "ENSP00000425661.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342324"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826592994",
      "coordinates": [
        {
          "allele": "C",
          "end": 358,
          "referenceAllele": "T",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_001281737.1:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268666.1:p.Met1Thr",
        "hgvsWellDefined": "NP_001268666.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021701"
    },
    {
      "@id": "http://reg.genome.network/allele/PA121816",
      "coordinates": [
        {
          "allele": "C",
          "end": 358,
          "referenceAllele": "T",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_004453.3:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004444.2:p.Met1Thr",
        "hgvsWellDefined": "NP_004444.2:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029615"
    },
    {
      "@id": "http://reg.genome.network/allele/PA121816",
      "coordinates": [
        {
          "allele": "C",
          "end": 163,
          "referenceAllele": "T",
          "start": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_004453.4:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004444.2:p.Met1Thr",
        "hgvsWellDefined": "NP_004444.2:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696142",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000511912.6:c.2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_004453.4:c.2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000426638.1:p.Met1Thr"
          },
          "RefSeq": {
            "hgvs": "NP_004444.2:p.Met1Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826592994",
      "coordinates": [
        {
          "allele": "C",
          "end": 163,
          "referenceAllele": "T",
          "start": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_001281737.2:c.2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268666.1:p.Met1Thr",
        "hgvsWellDefined": "NP_001268666.1:p.Met1Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715722"
    }
  ],
  "type": "nucleotide"
}