{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8338139",
  "communityStandardTitle": [
    "NM_000018.4(ACADVL):c.1531C>T (p.Arg511Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=800067[alleleid]",
        "alleleId": 800067,
        "preferredName": "NM_000018.4(ACADVL):c.1531C>T (p.Arg511Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/810866",
        "RCV": [
          "RCV001000161"
        ],
        "variationId": 810866
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-7127561-C-T",
        "id": "17-7127561-C-T",
        "variant": "17:7127561 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7127561C>T?assembly=hg19",
        "id": "chr17:g.7127561C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7224242C>T?assembly=hg38",
        "id": "chr17:g.7224242C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/771025937",
        "rs": 771025937
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-7127561-C-T?dataset=gnomad_r2_1",
        "id": "17-7127561-C-T",
        "variant": "17:7127561 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-7224242-C-T?dataset=gnomad_r3",
        "id": "17-7224242-C-T",
        "variant": "17:7224242 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-7224242-C-T?dataset=gnomad_r4",
        "id": "17-7224242-C-T",
        "variant": "17:7224242 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 7224242,
          "referenceAllele": "C",
          "start": 7224241
        }
      ],
      "hgvs": [
        "NC_000017.11:g.7224242C>T",
        "CM000679.2:g.7224242C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 7127561,
          "referenceAllele": "C",
          "start": 7127560
        }
      ],
      "hgvs": [
        "NC_000017.10:g.7127561C>T",
        "CM000679.1:g.7127561C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 7068285,
          "referenceAllele": "C",
          "start": 7068284
        }
      ],
      "hgvs": [
        "NC_000017.9:g.7068285C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9409,
          "referenceAllele": "C",
          "start": 9408
        }
      ],
      "hgvs": [
        "NG_007975.1:g.9409C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000743"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 809,
          "referenceAllele": "G",
          "start": 808
        }
      ],
      "hgvs": [
        "NG_008391.2:g.809G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001073"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15303,
          "referenceAllele": "G",
          "start": 15302
        }
      ],
      "hgvs": [
        "NG_033038.1:g.15303G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005371"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1578,
          "referenceAllele": "C",
          "start": 1577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000356839.10:c.1531C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349297.5:p.Arg511Trp",
        "hgvsWellDefined": "ENSP00000349297.5:p.Arg511Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748851",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356839.10:c.1531C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000018.4:c.1531C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349297.5:p.Arg511Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000009.1:p.Arg511Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1747,
          "referenceAllele": "C",
          "start": 1746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000322910.9:c.*1486C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325395.5:n.*1486C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258139"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1587,
          "referenceAllele": "C",
          "start": 1586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000350303.9:c.1465C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344152.5:p.Arg489Trp",
        "hgvsWellDefined": "ENSP00000344152.5:p.Arg489Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262675"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1710,
          "referenceAllele": "C",
          "start": 1709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000356839.9:c.1531C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349297.5:p.Arg511Trp",
        "hgvsWellDefined": "ENSP00000349297.5:p.Arg511Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 389,
          "referenceAllele": "C",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000542255.6:c.389C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS363352"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1621,
          "referenceAllele": "C",
          "start": 1620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000543245.6:c.1600C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438689.2:p.Arg534Trp",
        "hgvsWellDefined": "ENSP00000438689.2:p.Arg534Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363908"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26,
          "referenceAllele": "C",
          "start": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000578319.5:n.26C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385304"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 738,
          "referenceAllele": "C",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000578711.1:n.738C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385498"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26,
          "referenceAllele": "C",
          "start": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000578809.5:n.26C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385542"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 139,
          "referenceAllele": "C",
          "start": 138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000579391.1:n.139C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385824"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 647,
          "referenceAllele": "C",
          "start": 646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000579425.5:n.647C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385843"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 271,
          "endIntronDirection": "-",
          "endIntronOffset": 78,
          "referenceAllele": "C",
          "start": 271,
          "startIntronDirection": "-",
          "startIntronOffset": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000579546.1:c.272-79C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385898"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 318,
          "referenceAllele": "C",
          "start": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000579894.5:n.318C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS386057"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 153,
          "endIntronDirection": "-",
          "endIntronOffset": 78,
          "referenceAllele": "C",
          "start": 153,
          "startIntronDirection": "-",
          "startIntronOffset": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000583074.5:n.154-79C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS387573"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 306,
          "referenceAllele": "C",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000583850.5:n.306C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS387949"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 463,
          "endIntronDirection": "-",
          "endIntronOffset": 78,
          "referenceAllele": "C",
          "start": 463,
          "startIntronDirection": "-",
          "startIntronOffset": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000583858.5:c.464-79C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS387950"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 722,
          "referenceAllele": "C",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000585203.6:n.722C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388591"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825004170",
      "coordinates": [
        {
          "allele": "T",
          "end": 1685,
          "referenceAllele": "C",
          "start": 1684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_000018.3:c.1531C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000009.1:p.Arg511Trp",
        "hgvsWellDefined": "NP_000009.1:p.Arg511Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006083"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825374848",
      "coordinates": [
        {
          "allele": "T",
          "end": 1619,
          "referenceAllele": "C",
          "start": 1618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001033859.2:c.1465C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001029031.1:p.Arg489Trp",
        "hgvsWellDefined": "NP_001029031.1:p.Arg489Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009170"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916002727",
      "coordinates": [
        {
          "allele": "T",
          "end": 1621,
          "referenceAllele": "C",
          "start": 1620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270447.1:c.1600C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257376.1:p.Arg534Trp",
        "hgvsWellDefined": "NP_001257376.1:p.Arg534Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020295"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826516709",
      "coordinates": [
        {
          "allele": "T",
          "end": 1760,
          "referenceAllele": "C",
          "start": 1759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270448.1:c.1303C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257377.1:p.Arg435Trp",
        "hgvsWellDefined": "NP_001257377.1:p.Arg435Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020296"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1638,
          "referenceAllele": "C",
          "start": 1637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_006721516.2:c.1531C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721579.2:p.Arg511Trp",
        "hgvsWellDefined": "XP_006721579.2:p.Arg511Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074100"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1541,
          "endIntronDirection": "-",
          "endIntronOffset": 78,
          "referenceAllele": "C",
          "start": 1541,
          "startIntronDirection": "-",
          "startIntronOffset": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523829.1:c.1435-79C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522131.1:n.1435-79C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090962"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1541,
          "endIntronDirection": "-",
          "endIntronOffset": 78,
          "referenceAllele": "C",
          "start": 1541,
          "startIntronDirection": "-",
          "startIntronOffset": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523830.1:c.1435-79C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522132.1:n.1435-79C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1638,
          "referenceAllele": "C",
          "start": 1637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934021.1:n.1638C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129466"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1541,
          "endIntronDirection": "-",
          "endIntronOffset": 78,
          "referenceAllele": "C",
          "start": 1541,
          "startIntronDirection": "-",
          "startIntronOffset": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934022.1:n.1542-79C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129467"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1541,
          "endIntronDirection": "-",
          "endIntronOffset": 78,
          "referenceAllele": "C",
          "start": 1541,
          "startIntronDirection": "-",
          "startIntronOffset": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934023.1:n.1542-79C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129468"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1590,
          "referenceAllele": "C",
          "start": 1589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_006721516.3:c.1531C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721579.2:p.Arg511Trp",
        "hgvsWellDefined": "XP_006721579.2:p.Arg511Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540308"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1493,
          "endIntronDirection": "-",
          "endIntronOffset": 78,
          "referenceAllele": "C",
          "start": 1493,
          "startIntronDirection": "-",
          "startIntronOffset": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523829.2:c.1435-79C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522131.1:n.1435-79C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547194"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1493,
          "endIntronDirection": "-",
          "endIntronOffset": 78,
          "referenceAllele": "C",
          "start": 1493,
          "startIntronDirection": "-",
          "startIntronOffset": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523830.2:c.1435-79C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522132.1:n.1435-79C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547195"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1493,
          "endIntronDirection": "-",
          "endIntronOffset": 78,
          "referenceAllele": "C",
          "start": 1493,
          "startIntronDirection": "-",
          "startIntronOffset": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_024450741.1:c.1435-79C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306509.1:n.1435-79C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584272"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1590,
          "referenceAllele": "C",
          "start": 1589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934021.2:n.1590C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610564"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1493,
          "endIntronDirection": "-",
          "endIntronOffset": 78,
          "referenceAllele": "C",
          "start": 1493,
          "startIntronDirection": "-",
          "startIntronOffset": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934022.2:n.1494-79C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610565"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1493,
          "endIntronDirection": "-",
          "endIntronOffset": 78,
          "referenceAllele": "C",
          "start": 1493,
          "startIntronDirection": "-",
          "startIntronOffset": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934023.2:n.1494-79C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610566"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825004170",
      "coordinates": [
        {
          "allele": "T",
          "end": 1578,
          "referenceAllele": "C",
          "start": 1577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_000018.4:c.1531C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000009.1:p.Arg511Trp",
        "hgvsWellDefined": "NP_000009.1:p.Arg511Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662284",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356839.10:c.1531C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000018.4:c.1531C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349297.5:p.Arg511Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000009.1:p.Arg511Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825374848",
      "coordinates": [
        {
          "allele": "T",
          "end": 1512,
          "referenceAllele": "C",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001033859.3:c.1465C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001029031.1:p.Arg489Trp",
        "hgvsWellDefined": "NP_001029031.1:p.Arg489Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711542"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916002727",
      "coordinates": [
        {
          "allele": "T",
          "end": 1621,
          "referenceAllele": "C",
          "start": 1620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270447.2:c.1600C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257376.1:p.Arg534Trp",
        "hgvsWellDefined": "NP_001257376.1:p.Arg534Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715163"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826516709",
      "coordinates": [
        {
          "allele": "T",
          "end": 1653,
          "referenceAllele": "C",
          "start": 1652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270448.2:c.1303C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257377.1:p.Arg435Trp",
        "hgvsWellDefined": "NP_001257377.1:p.Arg435Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715164"
    }
  ],
  "type": "nucleotide"
}