{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16041874",
  "communityStandardTitle": [
    "NM_000018.4(ACADVL):c.1355dup (p.Arg453ProfsTer10)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=358479[alleleid]",
        "alleleId": 358479,
        "preferredName": "NM_000018.4(ACADVL):c.1355dup (p.Arg453fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/371516",
        "RCV": [
          "RCV000409489"
        ],
        "variationId": 371516
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7127309dupT?assembly=hg19",
        "id": "chr17:g.7127309dupT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7223990dupT?assembly=hg38",
        "id": "chr17:g.7223990dupT"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057517331",
        "rs": 1057517331
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 7223990,
          "referenceAllele": "",
          "start": 7223990
        }
      ],
      "hgvs": [
        "NC_000017.11:g.7223990dup",
        "CM000679.2:g.7223990dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 7127309,
          "referenceAllele": "",
          "start": 7127309
        }
      ],
      "hgvs": [
        "NC_000017.10:g.7127309dup",
        "CM000679.1:g.7127309dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 7068033,
          "referenceAllele": "",
          "start": 7068033
        }
      ],
      "hgvs": [
        "NC_000017.9:g.7068033dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9157,
          "referenceAllele": "",
          "start": 9157
        }
      ],
      "hgvs": [
        "NG_007975.1:g.9157dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000743"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1061,
          "referenceAllele": "",
          "start": 1061
        }
      ],
      "hgvs": [
        "NG_008391.2:g.1061dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001073"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 15555,
          "referenceAllele": "",
          "start": 15555
        }
      ],
      "hgvs": [
        "NG_033038.1:g.15555dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005371"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1402,
          "referenceAllele": "",
          "start": 1402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000356839.10:c.1355dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349297.5:p.Arg453ProfsTer10",
        "hgvsWellDefined": "ENSP00000349297.5:p.[Arg453_Leu455delinsPro;Ile457_Asn465delinsSerSerHisLeuPro;Ile467del;Arg469_Gly481del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748851",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356839.10:c.1355dup"
          },
          "RefSeq": {
            "hgvs": "NM_000018.4:c.1355dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349297.5:p.Arg453ProfsTer10"
          },
          "RefSeq": {
            "hgvs": "NP_000009.1:p.Arg453ProfsTer10"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1571,
          "referenceAllele": "",
          "start": 1571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000322910.9:c.*1310dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325395.5:n.*1310dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258139"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1411,
          "referenceAllele": "",
          "start": 1411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000350303.9:c.1289dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344152.5:p.Arg431ProfsTer10",
        "hgvsWellDefined": "ENSP00000344152.5:p.[Arg431_Leu433delinsPro;Ile435_Asn443delinsSerSerHisLeuPro;Ile445del;Arg447_Gly459del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262675"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1534,
          "referenceAllele": "",
          "start": 1534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000356839.9:c.1355dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349297.5:p.Arg453ProfsTer10",
        "hgvsWellDefined": "ENSP00000349297.5:p.[Arg453_Leu455delinsPro;Ile457_Asn465delinsSerSerHisLeuPro;Ile467del;Arg469_Gly481del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 213,
          "referenceAllele": "",
          "start": 213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000542255.6:c.213dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS363352"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1445,
          "referenceAllele": "",
          "start": 1445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000543245.6:c.1424dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438689.2:p.Arg476ProfsTer10",
        "hgvsWellDefined": "ENSP00000438689.2:p.[Arg476_Leu478delinsPro;Ile480_Asn488delinsSerSerHisLeuPro;Ile490del;Arg492_Gly504del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363908"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 486,
          "referenceAllele": "",
          "start": 486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000578711.1:n.486dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385498"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 471,
          "referenceAllele": "",
          "start": 471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000579425.5:n.471dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385843"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 192,
          "referenceAllele": "",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000579546.1:c.192dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385898"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 66,
          "referenceAllele": "",
          "start": 66
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000579894.5:n.66dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS386057"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 74,
          "referenceAllele": "",
          "start": 74
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000583074.5:n.74dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS387573"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 130,
          "referenceAllele": "",
          "start": 130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000583850.5:n.130dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS387949"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 384,
          "referenceAllele": "",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000583858.5:c.384dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS387950"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 546,
          "referenceAllele": "",
          "start": 546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000585203.6:n.546dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388591"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1509,
          "referenceAllele": "",
          "start": 1509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_000018.3:c.1355dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000009.1:p.Arg453ProfsTer10",
        "hgvsWellDefined": "NP_000009.1:p.[Arg453_Leu455delinsPro;Ile457_Asn465delinsSerSerHisLeuPro;Ile467del;Arg469_Gly481del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1443,
          "referenceAllele": "",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001033859.2:c.1289dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001029031.1:p.Arg431ProfsTer10",
        "hgvsWellDefined": "NP_001029031.1:p.[Arg431_Leu433delinsPro;Ile435_Asn443delinsSerSerHisLeuPro;Ile445del;Arg447_Gly459del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009170"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1445,
          "referenceAllele": "",
          "start": 1445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270447.1:c.1424dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257376.1:p.Arg476ProfsTer10",
        "hgvsWellDefined": "NP_001257376.1:p.[Arg476_Leu478delinsPro;Ile480_Asn488delinsSerSerHisLeuPro;Ile490del;Arg492_Gly504del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020295"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1584,
          "referenceAllele": "",
          "start": 1584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270448.1:c.1127dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257377.1:p.Arg377ProfsTer10",
        "hgvsWellDefined": "NP_001257377.1:p.[Arg377_Leu379delinsPro;Ile381_Asn389delinsSerSerHisLeuPro;Ile391del;Arg393_Gly405del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020296"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1462,
          "referenceAllele": "",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_006721516.2:c.1355dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721579.2:p.Arg453ProfsTer10",
        "hgvsWellDefined": "XP_006721579.2:p.[Arg453_Leu455delinsPro;Ile457_Asn465delinsSerSerHisLeuPro;Ile467del;Arg469_Gly481del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074100"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1462,
          "referenceAllele": "",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523829.1:c.1355dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522131.1:p.Arg453ProfsTer10",
        "hgvsWellDefined": "XP_011522131.1:p.[Arg453_Leu455delinsPro;Ile457_Asn465delinsSerSerHisLeuPro;Ile467del;Arg469_Arg481del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090962"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1462,
          "referenceAllele": "",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523830.1:c.1355dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522132.1:p.Arg453ProfsTer10",
        "hgvsWellDefined": "XP_011522132.1:p.[Arg453_Leu455delinsPro;Ile457_Asn465delinsSerSerHisLeuPro;Ile467del;Arg469_Arg481del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1462,
          "referenceAllele": "",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934021.1:n.1462dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129466"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1462,
          "referenceAllele": "",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934022.1:n.1462dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129467"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1462,
          "referenceAllele": "",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934023.1:n.1462dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129468"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1414,
          "referenceAllele": "",
          "start": 1414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_006721516.3:c.1355dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721579.2:p.Arg453ProfsTer10",
        "hgvsWellDefined": "XP_006721579.2:p.[Arg453_Leu455delinsPro;Ile457_Asn465delinsSerSerHisLeuPro;Ile467del;Arg469_Gly481del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540308"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1414,
          "referenceAllele": "",
          "start": 1414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523829.2:c.1355dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522131.1:p.Arg453ProfsTer10",
        "hgvsWellDefined": "XP_011522131.1:p.[Arg453_Leu455delinsPro;Ile457_Asn465delinsSerSerHisLeuPro;Ile467del;Arg469_Arg481del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547194"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1414,
          "referenceAllele": "",
          "start": 1414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523830.2:c.1355dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522132.1:p.Arg453ProfsTer10",
        "hgvsWellDefined": "XP_011522132.1:p.[Arg453_Leu455delinsPro;Ile457_Asn465delinsSerSerHisLeuPro;Ile467del;Arg469_Arg481del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547195"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1414,
          "referenceAllele": "",
          "start": 1414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_024450741.1:c.1355dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306509.1:p.Arg453ProfsTer10",
        "hgvsWellDefined": "XP_024306509.1:p.[Arg453_Leu455delinsPro;Ile457_Asn465delinsSerSerHisLeuPro;Ile467del;Arg469_Arg481del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584272"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1414,
          "referenceAllele": "",
          "start": 1414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934021.2:n.1414dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610564"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1414,
          "referenceAllele": "",
          "start": 1414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934022.2:n.1414dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610565"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1414,
          "referenceAllele": "",
          "start": 1414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934023.2:n.1414dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610566"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1402,
          "referenceAllele": "",
          "start": 1402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_000018.4:c.1355dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000009.1:p.Arg453ProfsTer10",
        "hgvsWellDefined": "NP_000009.1:p.[Arg453_Leu455delinsPro;Ile457_Asn465delinsSerSerHisLeuPro;Ile467del;Arg469_Gly481del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662284",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356839.10:c.1355dup"
          },
          "RefSeq": {
            "hgvs": "NM_000018.4:c.1355dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349297.5:p.Arg453ProfsTer10"
          },
          "RefSeq": {
            "hgvs": "NP_000009.1:p.Arg453ProfsTer10"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1336,
          "referenceAllele": "",
          "start": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001033859.3:c.1289dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001029031.1:p.Arg431ProfsTer10",
        "hgvsWellDefined": "NP_001029031.1:p.[Arg431_Leu433delinsPro;Ile435_Asn443delinsSerSerHisLeuPro;Ile445del;Arg447_Gly459del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711542"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1445,
          "referenceAllele": "",
          "start": 1445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270447.2:c.1424dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257376.1:p.Arg476ProfsTer10",
        "hgvsWellDefined": "NP_001257376.1:p.[Arg476_Leu478delinsPro;Ile480_Asn488delinsSerSerHisLeuPro;Ile490del;Arg492_Gly504del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715163"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1477,
          "referenceAllele": "",
          "start": 1477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270448.2:c.1127dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257377.1:p.Arg377ProfsTer10",
        "hgvsWellDefined": "NP_001257377.1:p.[Arg377_Leu379delinsPro;Ile381_Asn389delinsSerSerHisLeuPro;Ile391del;Arg393_Gly405del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715164"
    }
  ],
  "type": "nucleotide"
}