{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2245716045",
  "communityStandardTitle": [
    "NM_000018.4(ACADVL):c.1837C= (p.Arg613=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/118204014",
        "rs": 118204014
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 7224966,
          "referenceAllele": "C",
          "start": 7224965
        }
      ],
      "hgvs": [
        "NC_000017.11:g.7224966C=",
        "CM000679.2:g.7224966C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 7128285,
          "referenceAllele": "C",
          "start": 7128284
        }
      ],
      "hgvs": [
        "NC_000017.10:g.7128285C=",
        "CM000679.1:g.7128285C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 7069009,
          "referenceAllele": "C",
          "start": 7069008
        }
      ],
      "hgvs": [
        "NC_000017.9:g.7069009C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10133,
          "referenceAllele": "C",
          "start": 10132
        }
      ],
      "hgvs": [
        "NG_007975.1:g.10133C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000743"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 85,
          "referenceAllele": "G",
          "start": 84
        }
      ],
      "hgvs": [
        "NG_008391.2:g.85G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001073"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14579,
          "referenceAllele": "G",
          "start": 14578
        }
      ],
      "hgvs": [
        "NG_033038.1:g.14579G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005371"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1884,
          "referenceAllele": "C",
          "start": 1883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000356839.10:c.1837C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349297.5:p.Arg613="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748851",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356839.10:c.1837C="
          },
          "RefSeq": {
            "hgvs": "NM_000018.4:c.1837C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349297.5:p.Arg613="
          },
          "RefSeq": {
            "hgvs": "NP_000009.1:p.Arg613="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2053,
          "referenceAllele": "C",
          "start": 2052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000322910.9:c.*1792C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325395.5:n.*1792C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258139"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1893,
          "referenceAllele": "C",
          "start": 1892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000350303.9:c.1771C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344152.5:p.Arg591="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262675"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2016,
          "referenceAllele": "C",
          "start": 2015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000356839.9:c.1837C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349297.5:p.Arg613="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263893"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 716,
          "referenceAllele": "C",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000542255.6:c.716C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS363352"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1927,
          "referenceAllele": "C",
          "start": 1926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000543245.6:c.1906C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438689.2:p.Arg636="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363908"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 262,
          "referenceAllele": "C",
          "start": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000578033.1:n.262C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385152"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 418,
          "referenceAllele": "C",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000578319.5:n.418C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385304"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1462,
          "referenceAllele": "C",
          "start": 1461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000578711.1:n.1462C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385498"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 409,
          "referenceAllele": "C",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000578809.5:n.409C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385542"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 953,
          "referenceAllele": "C",
          "start": 952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000579425.5:n.953C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385843"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 572,
          "referenceAllele": "C",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000579546.1:c.572C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385898"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 203,
          "referenceAllele": "C",
          "start": 202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000583848.5:c.203C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466487.1:n.203C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387948"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 608,
          "referenceAllele": "C",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000583850.5:n.608C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS387949"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 768,
          "referenceAllele": "C",
          "start": 767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000583858.5:c.768C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS387950"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825004288",
      "coordinates": [
        {
          "allele": "C",
          "end": 1991,
          "referenceAllele": "C",
          "start": 1990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_000018.3:c.1837C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000009.1:p.Arg613="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006083"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825374990",
      "coordinates": [
        {
          "allele": "C",
          "end": 1925,
          "referenceAllele": "C",
          "start": 1924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001033859.2:c.1771C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001029031.1:p.Arg591="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009170"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826514911",
      "coordinates": [
        {
          "allele": "C",
          "end": 1927,
          "referenceAllele": "C",
          "start": 1926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270447.1:c.1906C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001257376.1:p.Arg636="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020295"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826517011",
      "coordinates": [
        {
          "allele": "C",
          "end": 2066,
          "referenceAllele": "C",
          "start": 2065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270448.1:c.1609C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001257377.1:p.Arg537="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020296"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1965,
          "referenceAllele": "C",
          "start": 1964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_006721516.2:c.1858C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006721579.2:p.Arg620="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074100"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1863,
          "referenceAllele": "C",
          "start": 1862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523829.1:c.1756C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011522131.1:p.Arg586="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090962"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1842,
          "referenceAllele": "C",
          "start": 1841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523830.1:c.1735C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011522132.1:p.Arg579="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090963"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1940,
          "referenceAllele": "C",
          "start": 1939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934021.1:n.1940C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129466"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1846,
          "referenceAllele": "C",
          "start": 1845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934022.1:n.1846C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129467"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1867,
          "referenceAllele": "C",
          "start": 1866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934023.1:n.1867C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129468"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1917,
          "referenceAllele": "C",
          "start": 1916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_006721516.3:c.1858C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006721579.2:p.Arg620="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540308"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1815,
          "referenceAllele": "C",
          "start": 1814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523829.2:c.1756C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011522131.1:p.Arg586="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547194"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1794,
          "referenceAllele": "C",
          "start": 1793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523830.2:c.1735C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011522132.1:p.Arg579="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547195"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1884,
          "referenceAllele": "C",
          "start": 1883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_024450741.1:c.1825C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024306509.1:p.Arg609="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584272"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1892,
          "referenceAllele": "C",
          "start": 1891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934021.2:n.1892C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610564"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1798,
          "referenceAllele": "C",
          "start": 1797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934022.2:n.1798C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610565"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1819,
          "referenceAllele": "C",
          "start": 1818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934023.2:n.1819C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610566"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825004288",
      "coordinates": [
        {
          "allele": "C",
          "end": 1884,
          "referenceAllele": "C",
          "start": 1883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_000018.4:c.1837C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000009.1:p.Arg613="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662284",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356839.10:c.1837C="
          },
          "RefSeq": {
            "hgvs": "NM_000018.4:c.1837C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349297.5:p.Arg613="
          },
          "RefSeq": {
            "hgvs": "NP_000009.1:p.Arg613="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825374990",
      "coordinates": [
        {
          "allele": "C",
          "end": 1818,
          "referenceAllele": "C",
          "start": 1817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001033859.3:c.1771C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001029031.1:p.Arg591="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711542"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826514911",
      "coordinates": [
        {
          "allele": "C",
          "end": 1927,
          "referenceAllele": "C",
          "start": 1926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270447.2:c.1906C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001257376.1:p.Arg636="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715163"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826517011",
      "coordinates": [
        {
          "allele": "C",
          "end": 1959,
          "referenceAllele": "C",
          "start": 1958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270448.2:c.1609C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001257377.1:p.Arg537="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715164"
    }
  ],
  "type": "nucleotide"
}