{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16603209",
  "communityStandardTitle": [
    "NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=363795[alleleid]",
        "alleleId": 363795,
        "preferredName": "NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/376917",
        "RCV": [
          "RCV000432463",
          "RCV000690847"
        ],
        "variationId": 376917
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7124264A>G?assembly=hg19",
        "id": "chr17:g.7124264A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7220945A>G?assembly=hg38",
        "id": "chr17:g.7220945A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057520088",
        "rs": 1057520088
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-7220945-A-G?dataset=gnomad_r3",
        "id": "17-7220945-A-G",
        "variant": "17:7220945 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-7220945-A-G?dataset=gnomad_r4",
        "id": "17-7220945-A-G",
        "variant": "17:7220945 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 7220945,
          "referenceAllele": "A",
          "start": 7220944
        }
      ],
      "hgvs": [
        "NC_000017.11:g.7220945A>G",
        "CM000679.2:g.7220945A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 7124264,
          "referenceAllele": "A",
          "start": 7124263
        }
      ],
      "hgvs": [
        "NC_000017.10:g.7124264A>G",
        "CM000679.1:g.7124264A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 7064988,
          "referenceAllele": "A",
          "start": 7064987
        }
      ],
      "hgvs": [
        "NC_000017.9:g.7064988A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6112,
          "referenceAllele": "A",
          "start": 6111
        }
      ],
      "hgvs": [
        "NG_007975.1:g.6112A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000743"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4106,
          "referenceAllele": "T",
          "start": 4105
        }
      ],
      "hgvs": [
        "NG_008391.2:g.4106T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001073"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 411,
          "referenceAllele": "A",
          "start": 410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000356839.10:c.364A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349297.5:p.Asn122Asp",
        "hgvsWellDefined": "ENSP00000349297.5:p.Asn122Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748851",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356839.10:c.364A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000018.4:c.364A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349297.5:p.Asn122Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000009.1:p.Asn122Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 580,
          "referenceAllele": "A",
          "start": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000322910.9:c.*319A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325395.5:n.*319A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258139"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 420,
          "referenceAllele": "A",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000350303.9:c.298A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344152.5:p.Asn100Asp",
        "hgvsWellDefined": "ENSP00000344152.5:p.Asn100Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262675"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 543,
          "referenceAllele": "A",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000356839.9:c.364A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349297.5:p.Asn122Asp",
        "hgvsWellDefined": "ENSP00000349297.5:p.Asn122Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263893"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 454,
          "referenceAllele": "A",
          "start": 453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000543245.6:c.433A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438689.2:p.Asn145Asp",
        "hgvsWellDefined": "ENSP00000438689.2:p.Asn145Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363908"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 441,
          "referenceAllele": "A",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000577191.5:n.441A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384749"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 572,
          "referenceAllele": "A",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000577433.5:n.572A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384862"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 293,
          "endIntronDirection": "+",
          "endIntronOffset": 115,
          "referenceAllele": "A",
          "start": 293,
          "startIntronDirection": "+",
          "startIntronOffset": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000577857.5:n.293+115A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385072"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 545,
          "referenceAllele": "A",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000579286.5:n.545A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385769"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 239,
          "referenceAllele": "A",
          "start": 238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000579886.2:c.202A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463246.1:p.Asn68Asp",
        "hgvsWellDefined": "ENSP00000463246.1:p.Asn68Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS386052"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 95,
          "referenceAllele": "A",
          "start": 94
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000580365.1:n.95A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS386296"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 63,
          "referenceAllele": "A",
          "start": 62
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000581378.5:c.63A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS386757"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 411,
          "referenceAllele": "A",
          "start": 410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000581562.5:n.411A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS386851"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 547,
          "referenceAllele": "A",
          "start": 546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000582056.5:n.547A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS387086"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 345,
          "referenceAllele": "A",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000582166.1:n.345A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS387137"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 489,
          "referenceAllele": "A",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000583312.5:c.364A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467920.1:p.Asn122Asp",
        "hgvsWellDefined": "ENSP00000467920.1:p.Asn122Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387693"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 479,
          "referenceAllele": "A",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000584103.5:c.397A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465353.1:p.Asn133Asp",
        "hgvsWellDefined": "ENSP00000465353.1:p.Asn133Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS388066"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645475059",
      "coordinates": [
        {
          "allele": "G",
          "end": 518,
          "referenceAllele": "A",
          "start": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_000018.3:c.364A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000009.1:p.Asn122Asp",
        "hgvsWellDefined": "NP_000009.1:p.Asn122Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006083"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825374196",
      "coordinates": [
        {
          "allele": "G",
          "end": 452,
          "referenceAllele": "A",
          "start": 451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001033859.2:c.298A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001029031.1:p.Asn100Asp",
        "hgvsWellDefined": "NP_001029031.1:p.Asn100Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009170"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826513705",
      "coordinates": [
        {
          "allele": "G",
          "end": 454,
          "referenceAllele": "A",
          "start": 453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270447.1:c.433A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257376.1:p.Asn145Asp",
        "hgvsWellDefined": "NP_001257376.1:p.Asn145Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020295"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913201137",
      "coordinates": [
        {
          "allele": "G",
          "end": 593,
          "referenceAllele": "A",
          "start": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270448.1:c.136A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257377.1:p.Asn46Asp",
        "hgvsWellDefined": "NP_001257377.1:p.Asn46Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020296"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 471,
          "referenceAllele": "A",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_006721516.2:c.364A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721579.2:p.Asn122Asp",
        "hgvsWellDefined": "XP_006721579.2:p.Asn122Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074100"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 471,
          "referenceAllele": "A",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523829.1:c.364A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522131.1:p.Asn122Asp",
        "hgvsWellDefined": "XP_011522131.1:p.Asn122Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090962"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 471,
          "referenceAllele": "A",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523830.1:c.364A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522132.1:p.Asn122Asp",
        "hgvsWellDefined": "XP_011522132.1:p.Asn122Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090963"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 471,
          "referenceAllele": "A",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934021.1:n.471A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129466"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 471,
          "referenceAllele": "A",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934022.1:n.471A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129467"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 471,
          "referenceAllele": "A",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934023.1:n.471A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129468"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 423,
          "referenceAllele": "A",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_006721516.3:c.364A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721579.2:p.Asn122Asp",
        "hgvsWellDefined": "XP_006721579.2:p.Asn122Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540308"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 423,
          "referenceAllele": "A",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523829.2:c.364A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522131.1:p.Asn122Asp",
        "hgvsWellDefined": "XP_011522131.1:p.Asn122Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547194"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 423,
          "referenceAllele": "A",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523830.2:c.364A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522132.1:p.Asn122Asp",
        "hgvsWellDefined": "XP_011522132.1:p.Asn122Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547195"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 423,
          "referenceAllele": "A",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_024450741.1:c.364A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306509.1:p.Asn122Asp",
        "hgvsWellDefined": "XP_024306509.1:p.Asn122Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584272"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 423,
          "referenceAllele": "A",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934021.2:n.423A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610564"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 423,
          "referenceAllele": "A",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934022.2:n.423A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610565"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 423,
          "referenceAllele": "A",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934023.2:n.423A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610566"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645475059",
      "coordinates": [
        {
          "allele": "G",
          "end": 411,
          "referenceAllele": "A",
          "start": 410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_000018.4:c.364A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000009.1:p.Asn122Asp",
        "hgvsWellDefined": "NP_000009.1:p.Asn122Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662284",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356839.10:c.364A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000018.4:c.364A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349297.5:p.Asn122Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000009.1:p.Asn122Asp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825374196",
      "coordinates": [
        {
          "allele": "G",
          "end": 345,
          "referenceAllele": "A",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001033859.3:c.298A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001029031.1:p.Asn100Asp",
        "hgvsWellDefined": "NP_001029031.1:p.Asn100Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711542"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826513705",
      "coordinates": [
        {
          "allele": "G",
          "end": 454,
          "referenceAllele": "A",
          "start": 453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270447.2:c.433A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257376.1:p.Asn145Asp",
        "hgvsWellDefined": "NP_001257376.1:p.Asn145Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715163"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913201137",
      "coordinates": [
        {
          "allele": "G",
          "end": 486,
          "referenceAllele": "A",
          "start": 485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270448.2:c.136A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257377.1:p.Asn46Asp",
        "hgvsWellDefined": "NP_001257377.1:p.Asn46Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715164"
    }
  ],
  "type": "nucleotide"
}