{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1141580864",
  "communityStandardTitle": [
    "NM_000016.6(ACADM):c.362C= (p.Thr121=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121434283",
        "rs": 121434283
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 75733603,
          "referenceAllele": "C",
          "start": 75733602
        }
      ],
      "hgvs": [
        "NC_000001.11:g.75733603C=",
        "CM000663.2:g.75733603C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 76199288,
          "referenceAllele": "C",
          "start": 76199287
        }
      ],
      "hgvs": [
        "NC_000001.10:g.76199288C=",
        "CM000663.1:g.76199288C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 75971876,
          "referenceAllele": "C",
          "start": 75971875
        }
      ],
      "hgvs": [
        "NC_000001.9:g.75971876C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14246,
          "referenceAllele": "C",
          "start": 14245
        }
      ],
      "hgvs": [
        "NG_007045.2:g.14246C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000444"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 441,
          "referenceAllele": "C",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000370841.9:c.362C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359878.5:p.Thr121="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750687",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370841.9:c.362C="
          },
          "RefSeq": {
            "hgvs": "NM_000016.6:c.362C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359878.5:p.Thr121="
          },
          "RefSeq": {
            "hgvs": "NP_000007.1:p.Thr121="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1324,
          "referenceAllele": "C",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000473018.3:n.1324C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757083"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1324,
          "referenceAllele": "C",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000525881.6:n.1324C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758937"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 719,
          "referenceAllele": "C",
          "start": 718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000541113.6:c.362C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442324.2:p.Thr121="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759657"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1324,
          "referenceAllele": "C",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000679509.1:n.1324C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779140"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 712,
          "referenceAllele": "C",
          "start": 711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000679530.1:c.*130C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506454.1:n.*130C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779159"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1324,
          "referenceAllele": "C",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000679615.1:n.1324C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779243"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 57,
          "endIntronDirection": "-",
          "endIntronOffset": 6376,
          "referenceAllele": "C",
          "start": 57,
          "startIntronDirection": "-",
          "startIntronOffset": 6377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000679687.1:c.31-6377C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506598.1:n.31-6377C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779314"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 318,
          "endIntronDirection": "+",
          "endIntronOffset": 454,
          "referenceAllele": "C",
          "start": 318,
          "startIntronDirection": "+",
          "startIntronOffset": 453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000679704.1:c.*153+454C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505117.1:n.*153+454C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779331"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 563,
          "referenceAllele": "C",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000679709.1:c.*325C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506623.1:n.*325C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779336"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 207,
          "endIntronDirection": "+",
          "endIntronOffset": 681,
          "referenceAllele": "C",
          "start": 207,
          "startIntronDirection": "+",
          "startIntronOffset": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000679804.1:n.207+681C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779428"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 643,
          "endIntronDirection": "+",
          "endIntronOffset": 681,
          "referenceAllele": "C",
          "start": 643,
          "startIntronDirection": "+",
          "startIntronOffset": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000679976.1:c.286+681C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505565.1:n.286+681C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779598"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2489,
          "referenceAllele": "C",
          "start": 2488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000680166.1:n.2489C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779786"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 643,
          "endIntronDirection": "+",
          "endIntronOffset": 681,
          "referenceAllele": "C",
          "start": 643,
          "startIntronDirection": "+",
          "startIntronOffset": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000680517.1:c.286+681C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505803.1:n.286+681C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780133"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1324,
          "referenceAllele": "C",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000680582.1:n.1324C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780197"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 719,
          "referenceAllele": "C",
          "start": 718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000680613.1:c.362C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506114.1:p.Thr121="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780228"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 492,
          "referenceAllele": "C",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000680662.1:c.*276C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505080.1:n.*276C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780277"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 647,
          "endIntronDirection": "+",
          "endIntronOffset": 681,
          "referenceAllele": "C",
          "start": 647,
          "startIntronDirection": "+",
          "startIntronOffset": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000680691.1:c.*50+681C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506487.1:n.*50+681C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780306"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 643,
          "endIntronDirection": "+",
          "endIntronOffset": 681,
          "referenceAllele": "C",
          "start": 643,
          "startIntronDirection": "+",
          "startIntronOffset": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000680694.1:c.286+681C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505658.1:n.286+681C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780309"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 288,
          "endIntronDirection": "+",
          "endIntronOffset": 681,
          "referenceAllele": "C",
          "start": 288,
          "startIntronDirection": "+",
          "startIntronOffset": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000680743.1:c.*54+681C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505073.1:n.*54+681C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780358"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 719,
          "referenceAllele": "C",
          "start": 718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000680749.1:c.362C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505122.1:p.Thr121="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780364"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 643,
          "endIntronDirection": "+",
          "endIntronOffset": 681,
          "referenceAllele": "C",
          "start": 643,
          "startIntronDirection": "+",
          "startIntronOffset": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000680798.1:c.286+681C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505670.1:n.286+681C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780413"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 719,
          "referenceAllele": "C",
          "start": 718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000680805.1:c.362C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505447.1:p.Thr121="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780420"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 357,
          "referenceAllele": "C",
          "start": 356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000680844.1:c.*146C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506541.1:n.*146C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780459"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 458,
          "referenceAllele": "C",
          "start": 457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000680948.1:c.*229C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505441.1:n.*229C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780562"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 719,
          "referenceAllele": "C",
          "start": 718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000680964.1:c.362C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505961.1:p.Thr121="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780578"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 719,
          "referenceAllele": "C",
          "start": 718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000681037.1:c.362C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506025.1:p.Thr121="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780650"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 719,
          "referenceAllele": "C",
          "start": 718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000681063.1:c.362C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506616.1:p.Thr121="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780676"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 723,
          "referenceAllele": "C",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000681209.1:c.*126C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505877.1:n.*126C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780820"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 719,
          "referenceAllele": "C",
          "start": 718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000681278.1:n.719C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780889"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 719,
          "referenceAllele": "C",
          "start": 718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000681289.1:n.719C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780900"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 388,
          "endIntronDirection": "+",
          "endIntronOffset": 681,
          "referenceAllele": "C",
          "start": 388,
          "startIntronDirection": "+",
          "startIntronOffset": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000681361.1:c.*54+681C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506679.1:n.*54+681C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780971"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 719,
          "referenceAllele": "C",
          "start": 718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000681430.1:c.362C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506301.1:p.Thr121="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781037"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 643,
          "endIntronDirection": "+",
          "endIntronOffset": 681,
          "referenceAllele": "C",
          "start": 643,
          "startIntronDirection": "+",
          "startIntronOffset": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000681446.1:c.286+681C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506244.1:n.286+681C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781053"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 225,
          "endIntronDirection": "+",
          "endIntronOffset": 681,
          "referenceAllele": "C",
          "start": 225,
          "startIntronDirection": "+",
          "startIntronOffset": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000681450.1:c.*54+681C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505660.1:n.*54+681C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781057"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 228,
          "endIntronDirection": "+",
          "endIntronOffset": 681,
          "referenceAllele": "C",
          "start": 228,
          "startIntronDirection": "+",
          "startIntronOffset": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000681548.1:c.*54+681C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505275.1:n.*54+681C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781154"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 363,
          "referenceAllele": "C",
          "start": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000681616.1:c.*130C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505111.1:n.*130C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781222"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 643,
          "endIntronDirection": "+",
          "endIntronOffset": 681,
          "referenceAllele": "C",
          "start": 643,
          "startIntronDirection": "+",
          "startIntronOffset": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000681621.1:c.286+681C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505770.1:n.286+681C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781227"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1324,
          "referenceAllele": "C",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000681680.1:n.1324C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781285"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 258,
          "endIntronDirection": "+",
          "endIntronOffset": 681,
          "referenceAllele": "C",
          "start": 258,
          "startIntronDirection": "+",
          "startIntronOffset": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000681720.1:c.*54+681C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505438.1:n.*54+681C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781323"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 584,
          "referenceAllele": "C",
          "start": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000681730.1:n.584C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781333"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 542,
          "referenceAllele": "C",
          "start": 541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000681790.1:c.104C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505130.1:p.Thr35="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781392"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 978,
          "referenceAllele": "C",
          "start": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000681837.1:n.978C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781439"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1324,
          "referenceAllele": "C",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000681913.1:n.1324C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781513"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 374,
          "referenceAllele": "C",
          "start": 373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000681916.1:c.*130C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506477.1:n.*130C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781516"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1324,
          "referenceAllele": "C",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000681930.1:n.1324C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781529"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 540,
          "referenceAllele": "C",
          "start": 539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000370834.9:c.461C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359871.5:p.Thr154="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268272"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 799,
          "referenceAllele": "C",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000370841.8:c.362C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359878.4:p.Thr121="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268275"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 382,
          "referenceAllele": "C",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000420607.6:c.374C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409612.2:p.Thr125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286393"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 219,
          "endIntronDirection": "+",
          "endIntronOffset": 681,
          "referenceAllele": "C",
          "start": 219,
          "startIntronDirection": "+",
          "startIntronOffset": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000525808.5:c.*54+681C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434823.1:n.*54+681C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351775"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 459,
          "referenceAllele": "C",
          "start": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000526129.5:c.*146C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434092.1:n.*146C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352042"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 356,
          "referenceAllele": "C",
          "start": 355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000526196.5:c.*130C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431953.1:n.*130C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352100"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 296,
          "endIntronDirection": "+",
          "endIntronOffset": 681,
          "referenceAllele": "C",
          "start": 296,
          "startIntronDirection": "+",
          "startIntronOffset": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000529059.5:n.296+681C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS354506"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 145,
          "endIntronDirection": "+",
          "endIntronOffset": 5115,
          "referenceAllele": "C",
          "start": 145,
          "startIntronDirection": "+",
          "startIntronOffset": 5114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000530953.6:c.118+5115C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431372.1:n.118+5115C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356126"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 343,
          "referenceAllele": "C",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000532509.5:c.*126C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432522.1:n.*126C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS357436"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 307,
          "endIntronDirection": "+",
          "endIntronOffset": 681,
          "referenceAllele": "C",
          "start": 307,
          "startIntronDirection": "+",
          "startIntronOffset": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000534334.5:c.286+681C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435584.1:n.286+681C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358960"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 715,
          "referenceAllele": "C",
          "start": 714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "ENST00000541113.5:c.254C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442324.1:p.Thr85="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362767"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825003170",
      "coordinates": [
        {
          "allele": "C",
          "end": 803,
          "referenceAllele": "C",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "NM_000016.5:c.362C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000007.1:p.Thr121="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006081"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825602953",
      "coordinates": [
        {
          "allele": "C",
          "end": 815,
          "referenceAllele": "C",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "NM_001127328.2:c.374C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001120800.1:p.Thr125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011581"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826699771",
      "coordinates": [
        {
          "allele": "C",
          "end": 715,
          "referenceAllele": "C",
          "start": 714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "NM_001286042.1:c.254C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001272971.1:p.Thr85="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022702"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826700699",
      "coordinates": [
        {
          "allele": "C",
          "end": 902,
          "referenceAllele": "C",
          "start": 901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "NM_001286043.1:c.461C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001272972.1:p.Thr154="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022703"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 639,
          "endIntronDirection": "+",
          "endIntronOffset": 681,
          "referenceAllele": "C",
          "start": 639,
          "startIntronDirection": "+",
          "startIntronOffset": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "NM_001286044.1:c.-100+681C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001272973.1:n.-100+681C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022704"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825003170",
      "coordinates": [
        {
          "allele": "C",
          "end": 441,
          "referenceAllele": "C",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "NM_000016.6:c.362C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000007.1:p.Thr121="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674669",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370841.9:c.362C="
          },
          "RefSeq": {
            "hgvs": "NM_000016.6:c.362C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359878.5:p.Thr121="
          },
          "RefSeq": {
            "hgvs": "NP_000007.1:p.Thr121="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825602953",
      "coordinates": [
        {
          "allele": "C",
          "end": 453,
          "referenceAllele": "C",
          "start": 452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "NM_001127328.3:c.374C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001120800.1:p.Thr125="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712205"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826699771",
      "coordinates": [
        {
          "allele": "C",
          "end": 353,
          "referenceAllele": "C",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "NM_001286042.2:c.254C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001272971.1:p.Thr85="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716103"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826700699",
      "coordinates": [
        {
          "allele": "C",
          "end": 540,
          "referenceAllele": "C",
          "start": 539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "NM_001286043.2:c.461C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001272972.1:p.Thr154="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716104"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 277,
          "endIntronDirection": "+",
          "endIntronOffset": 681,
          "referenceAllele": "C",
          "start": 277,
          "startIntronDirection": "+",
          "startIntronOffset": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "NM_001286044.2:c.-100+681C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001272973.1:n.-100+681C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716105"
    }
  ],
  "type": "nucleotide"
}