{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA279923",
  "communityStandardTitle": [
    "NM_000018.4(ACADVL):c.1699C>T (p.Arg567Trp)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5630724",
        "active": true,
        "id": "COSM5630724"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=217195[alleleid]",
        "alleleId": 217195,
        "preferredName": "NM_000018.4(ACADVL):c.1699C>T (p.Arg567Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/219172",
        "RCV": [
          "RCV000203523"
        ],
        "variationId": 219172
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7127981C>T?assembly=hg19",
        "id": "chr17:g.7127981C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7224662C>T?assembly=hg38",
        "id": "chr17:g.7224662C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/864321651",
        "rs": 864321651
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-7127981-C-T?dataset=gnomad_r2_1",
        "id": "17-7127981-C-T",
        "variant": "17:7127981 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-7224662-C-T?dataset=gnomad_r3",
        "id": "17-7224662-C-T",
        "variant": "17:7224662 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-7224662-C-T?dataset=gnomad_r4",
        "id": "17-7224662-C-T",
        "variant": "17:7224662 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 7224662,
          "referenceAllele": "C",
          "start": 7224661
        }
      ],
      "hgvs": [
        "NC_000017.11:g.7224662C>T",
        "CM000679.2:g.7224662C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 7127981,
          "referenceAllele": "C",
          "start": 7127980
        }
      ],
      "hgvs": [
        "NC_000017.10:g.7127981C>T",
        "CM000679.1:g.7127981C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 7068705,
          "referenceAllele": "C",
          "start": 7068704
        }
      ],
      "hgvs": [
        "NC_000017.9:g.7068705C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9829,
          "referenceAllele": "C",
          "start": 9828
        }
      ],
      "hgvs": [
        "NG_007975.1:g.9829C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000743"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 389,
          "referenceAllele": "G",
          "start": 388
        }
      ],
      "hgvs": [
        "NG_008391.2:g.389G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001073"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14883,
          "referenceAllele": "G",
          "start": 14882
        }
      ],
      "hgvs": [
        "NG_033038.1:g.14883G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005371"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1746,
          "referenceAllele": "C",
          "start": 1745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000356839.10:c.1699C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349297.5:p.Arg567Trp",
        "hgvsWellDefined": "ENSP00000349297.5:p.Arg567Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748851",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356839.10:c.1699C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000018.4:c.1699C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349297.5:p.Arg567Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000009.1:p.Arg567Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1915,
          "referenceAllele": "C",
          "start": 1914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000322910.9:c.*1654C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325395.5:n.*1654C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258139"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1755,
          "referenceAllele": "C",
          "start": 1754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000350303.9:c.1633C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344152.5:p.Arg545Trp",
        "hgvsWellDefined": "ENSP00000344152.5:p.Arg545Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262675"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1878,
          "referenceAllele": "C",
          "start": 1877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000356839.9:c.1699C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349297.5:p.Arg567Trp",
        "hgvsWellDefined": "ENSP00000349297.5:p.Arg567Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 536,
          "endIntronDirection": "-",
          "endIntronOffset": 52,
          "referenceAllele": "C",
          "start": 536,
          "startIntronDirection": "-",
          "startIntronOffset": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000542255.6:c.537-53C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS363352"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1789,
          "referenceAllele": "C",
          "start": 1788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000543245.6:c.1768C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438689.2:p.Arg590Trp",
        "hgvsWellDefined": "ENSP00000438689.2:p.Arg590Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363908"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 30,
          "referenceAllele": "C",
          "start": 29
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000578033.1:n.30C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385152"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 280,
          "referenceAllele": "C",
          "start": 279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000578319.5:n.280C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385304"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1158,
          "referenceAllele": "C",
          "start": 1157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000578711.1:n.1158C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385498"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 271,
          "referenceAllele": "C",
          "start": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000578809.5:n.271C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385542"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 815,
          "referenceAllele": "C",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000579425.5:n.815C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385843"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 434,
          "referenceAllele": "C",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000579546.1:c.434C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385898"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 299,
          "endIntronDirection": "-",
          "endIntronOffset": 52,
          "referenceAllele": "C",
          "start": 299,
          "startIntronDirection": "-",
          "startIntronOffset": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000583074.5:n.300-53C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS387573"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 65,
          "referenceAllele": "C",
          "start": 64
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000583848.5:c.65C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466487.1:p.Thr22Met",
        "hgvsWellDefined": "ENSP00000466487.1:p.Thr22Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387948"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 470,
          "referenceAllele": "C",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000583850.5:n.470C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS387949"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 630,
          "referenceAllele": "C",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000583858.5:c.630C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS387950"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 890,
          "referenceAllele": "C",
          "start": 889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000585203.6:n.890C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388591"
    },
    {
      "@id": "http://reg.genome.network/allele/PA279924",
      "coordinates": [
        {
          "allele": "T",
          "end": 1853,
          "referenceAllele": "C",
          "start": 1852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_000018.3:c.1699C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000009.1:p.Arg567Trp",
        "hgvsWellDefined": "NP_000009.1:p.Arg567Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006083"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825374912",
      "coordinates": [
        {
          "allele": "T",
          "end": 1787,
          "referenceAllele": "C",
          "start": 1786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001033859.2:c.1633C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001029031.1:p.Arg545Trp",
        "hgvsWellDefined": "NP_001029031.1:p.Arg545Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009170"
    },
    {
      "@id": "http://reg.genome.network/allele/PA351337",
      "coordinates": [
        {
          "allele": "T",
          "end": 1789,
          "referenceAllele": "C",
          "start": 1788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270447.1:c.1768C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257376.1:p.Arg590Trp",
        "hgvsWellDefined": "NP_001257376.1:p.Arg590Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020295"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826516839",
      "coordinates": [
        {
          "allele": "T",
          "end": 1928,
          "referenceAllele": "C",
          "start": 1927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270448.1:c.1471C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257377.1:p.Arg491Trp",
        "hgvsWellDefined": "NP_001257377.1:p.Arg491Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020296"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1785,
          "endIntronDirection": "-",
          "endIntronOffset": 52,
          "referenceAllele": "C",
          "start": 1785,
          "startIntronDirection": "-",
          "startIntronOffset": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_006721516.2:c.1679-53C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721579.2:n.1679-53C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074100"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1683,
          "endIntronDirection": "-",
          "endIntronOffset": 52,
          "referenceAllele": "C",
          "start": 1683,
          "startIntronDirection": "-",
          "startIntronOffset": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523829.1:c.1577-53C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522131.1:n.1577-53C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090962"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1704,
          "referenceAllele": "C",
          "start": 1703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523830.1:c.1597C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522132.1:p.Arg533Trp",
        "hgvsWellDefined": "XP_011522132.1:p.Arg533Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1802,
          "referenceAllele": "C",
          "start": 1801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934021.1:n.1802C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129466"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1708,
          "referenceAllele": "C",
          "start": 1707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934022.1:n.1708C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129467"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1687,
          "endIntronDirection": "-",
          "endIntronOffset": 52,
          "referenceAllele": "C",
          "start": 1687,
          "startIntronDirection": "-",
          "startIntronOffset": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934023.1:n.1688-53C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129468"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1737,
          "endIntronDirection": "-",
          "endIntronOffset": 52,
          "referenceAllele": "C",
          "start": 1737,
          "startIntronDirection": "-",
          "startIntronOffset": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_006721516.3:c.1679-53C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721579.2:n.1679-53C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540308"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1635,
          "endIntronDirection": "-",
          "endIntronOffset": 52,
          "referenceAllele": "C",
          "start": 1635,
          "startIntronDirection": "-",
          "startIntronOffset": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523829.2:c.1577-53C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522131.1:n.1577-53C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547194"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1656,
          "referenceAllele": "C",
          "start": 1655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523830.2:c.1597C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522132.1:p.Arg533Trp",
        "hgvsWellDefined": "XP_011522132.1:p.Arg533Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547195"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1746,
          "referenceAllele": "C",
          "start": 1745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_024450741.1:c.1687C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306509.1:p.Arg563Trp",
        "hgvsWellDefined": "XP_024306509.1:p.Arg563Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584272"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1754,
          "referenceAllele": "C",
          "start": 1753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934021.2:n.1754C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610564"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1660,
          "referenceAllele": "C",
          "start": 1659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934022.2:n.1660C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610565"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1639,
          "endIntronDirection": "-",
          "endIntronOffset": 52,
          "referenceAllele": "C",
          "start": 1639,
          "startIntronDirection": "-",
          "startIntronOffset": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934023.2:n.1640-53C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610566"
    },
    {
      "@id": "http://reg.genome.network/allele/PA279924",
      "coordinates": [
        {
          "allele": "T",
          "end": 1746,
          "referenceAllele": "C",
          "start": 1745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_000018.4:c.1699C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000009.1:p.Arg567Trp",
        "hgvsWellDefined": "NP_000009.1:p.Arg567Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662284",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356839.10:c.1699C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000018.4:c.1699C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349297.5:p.Arg567Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000009.1:p.Arg567Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825374912",
      "coordinates": [
        {
          "allele": "T",
          "end": 1680,
          "referenceAllele": "C",
          "start": 1679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001033859.3:c.1633C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001029031.1:p.Arg545Trp",
        "hgvsWellDefined": "NP_001029031.1:p.Arg545Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711542"
    },
    {
      "@id": "http://reg.genome.network/allele/PA351337",
      "coordinates": [
        {
          "allele": "T",
          "end": 1789,
          "referenceAllele": "C",
          "start": 1788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270447.2:c.1768C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257376.1:p.Arg590Trp",
        "hgvsWellDefined": "NP_001257376.1:p.Arg590Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715163"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826516839",
      "coordinates": [
        {
          "allele": "T",
          "end": 1821,
          "referenceAllele": "C",
          "start": 1820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270448.2:c.1471C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257377.1:p.Arg491Trp",
        "hgvsWellDefined": "NP_001257377.1:p.Arg491Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715164"
    }
  ],
  "type": "nucleotide"
}