{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6426010",
  "communityStandardTitle": [
    "NM_001351132.2(PEX5):c.147+4A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2749958[alleleid]",
        "alleleId": 2749958,
        "preferredName": "NM_001351132.2(PEX5):c.147+4A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2582386",
        "RCV": [
          "RCV003333369",
          "RCV003333367",
          "RCV003333368"
        ],
        "variationId": 2582386
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-7343124-A-G",
        "id": "12-7343124-A-G",
        "variant": "12:7343124 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.7343124A>G?assembly=hg19",
        "id": "chr12:g.7343124A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.7190528A>G?assembly=hg38",
        "id": "chr12:g.7190528A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/749342175",
        "rs": 749342175
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 7190528,
          "referenceAllele": "A",
          "start": 7190527
        }
      ],
      "hgvs": [
        "NC_000012.12:g.7190528A>G",
        "CM000674.2:g.7190528A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 7343124,
          "referenceAllele": "A",
          "start": 7343123
        }
      ],
      "hgvs": [
        "NC_000012.11:g.7343124A>G",
        "CM000674.1:g.7343124A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 7234391,
          "referenceAllele": "A",
          "start": 7234390
        }
      ],
      "hgvs": [
        "NC_000012.10:g.7234391A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6366,
          "referenceAllele": "A",
          "start": 6365
        }
      ],
      "hgvs": [
        "NG_008448.1:g.6366A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001104"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 228,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 228,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "ENST00000675855.1:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502374.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775621",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675855.1:c.147+4A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001351132.2:c.147+4A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000502374.1:n.147+4A>G"
          },
          "RefSeq": {
            "hgvs": "NP_001338061.1:n.147+4A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 330,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 330,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "ENST00000266563.9:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000266563.5:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251916"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 164,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 164,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "ENST00000266564.7:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000266564.3:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251917"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 428,
          "referenceAllele": "A",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "ENST00000396637.7:c.151A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379877.3:p.Ser51Gly",
        "hgvsWellDefined": "ENSP00000379877.3:p.Ser51Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277365"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 299,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 299,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "ENST00000412720.6:c.210+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391601.2:n.210+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282732"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 665,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 665,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "ENST00000420616.6:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410159.2:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286398"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 231,
          "referenceAllele": "A",
          "start": 230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "ENST00000434354.6:c.151A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407401.2:p.Ser51Gly",
        "hgvsWellDefined": "ENSP00000407401.2:p.Ser51Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292984"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 727,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 727,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "ENST00000455147.6:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400647.2:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302906"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 295,
          "referenceAllele": "A",
          "start": 294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "ENST00000535486.2:n.295A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS359756"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 372,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 372,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "ENST00000536841.5:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445630.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360464"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 126,
          "endIntronDirection": "-",
          "endIntronOffset": 359,
          "referenceAllele": "A",
          "start": 126,
          "startIntronDirection": "-",
          "startIntronOffset": 360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "ENST00000536883.5:c.-102-360A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441553.1:n.-102-360A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360488"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 164,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 164,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "ENST00000537873.5:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437938.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 482,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 482,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "ENST00000540398.5:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438494.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362373"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 250,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 250,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "ENST00000542539.5:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439025.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363516"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 90,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 90,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "ENST00000543974.5:c.-103+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438772.1:n.-103+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364322"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 412,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 412,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "ENST00000544456.5:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440833.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364576"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 65,
          "endIntronDirection": "-",
          "endIntronOffset": 359,
          "referenceAllele": "A",
          "start": 65,
          "startIntronDirection": "-",
          "startIntronOffset": 360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "ENST00000545220.1:n.66-360A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364993"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 207,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 207,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "ENST00000545574.5:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443500.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365170"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 163,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 163,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_000319.4:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000310.2:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006383"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825774686",
      "coordinates": [
        {
          "allele": "G",
          "end": 232,
          "referenceAllele": "A",
          "start": 231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001131023.1:c.151A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124495.1:p.Ser51Gly",
        "hgvsWellDefined": "NP_001124495.1:p.Ser51Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012173"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 228,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 228,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001131024.1:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124496.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012174"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 694,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 694,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001131025.1:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124497.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012175"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 727,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 727,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001131026.1:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124498.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012176"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 299,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 299,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001300789.1:c.210+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287718.1:n.210+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024849"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 294,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 294,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "XM_005253455.1:c.210+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253512.1:n.210+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060293"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 273,
          "referenceAllele": "A",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "XM_011520793.1:c.214A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519095.1:p.Ser72Gly",
        "hgvsWellDefined": "XP_011519095.1:p.Ser72Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087958"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 273,
          "referenceAllele": "A",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "XM_011520794.1:c.214A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519096.1:p.Ser72Gly",
        "hgvsWellDefined": "XP_011519096.1:p.Ser72Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087959"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 664,
          "referenceAllele": "A",
          "start": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "XM_011520795.1:c.151A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519097.1:p.Ser51Gly",
        "hgvsWellDefined": "XP_011519097.1:p.Ser51Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087960"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 726,
          "referenceAllele": "A",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "XM_011520796.1:c.151A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519098.1:p.Ser51Gly",
        "hgvsWellDefined": "XP_011519098.1:p.Ser51Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087961"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 198,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 198,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "XM_011520797.1:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519099.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087962"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 407,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 407,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "XM_011520798.1:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519100.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087963"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 478,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 478,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "XM_011520799.1:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519101.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087964"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 293,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 293,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "XM_011520800.1:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519102.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087965"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 272,
          "referenceAllele": "A",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "XM_011520801.1:c.214A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519103.1:p.Ser72Gly",
        "hgvsWellDefined": "XP_011519103.1:p.Ser72Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087966"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 289,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 289,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351124.1:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338053.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519927"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 532,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 532,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351126.1:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338055.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519929"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 423,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 423,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351127.1:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338056.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519930"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 301,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 301,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351128.1:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338057.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519931"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 535,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 535,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351130.1:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338059.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519932"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 532,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 532,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351131.1:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338060.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519933"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 228,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 228,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351132.1:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338061.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519934"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 423,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 423,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351133.1:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338062.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519935"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 301,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 301,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351134.1:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338063.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519936"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 303,
          "referenceAllele": "A",
          "start": 302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351135.1:c.214A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338064.1:p.Ser72Gly",
        "hgvsWellDefined": "NP_001338064.1:p.Ser72Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519937"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 228,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 228,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351136.1:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338065.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519938"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 299,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 299,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351137.1:c.210+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338066.1:n.210+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519939"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741864612",
      "coordinates": [
        {
          "allele": "G",
          "end": 232,
          "referenceAllele": "A",
          "start": 231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351138.1:c.151A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338067.1:p.Ser51Gly",
        "hgvsWellDefined": "NP_001338067.1:p.Ser51Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519940"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 228,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 228,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351139.1:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338068.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519941"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 423,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 423,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351140.1:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338069.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519942"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 247,
          "referenceAllele": "A",
          "start": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "XM_011520793.2:c.214A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519095.1:p.Ser72Gly",
        "hgvsWellDefined": "XP_011519095.1:p.Ser72Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545879"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 632,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 632,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "XM_017019744.1:c.591+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875233.1:n.591+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571346"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 633,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 633,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "XM_017019745.1:c.591+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875234.1:n.591+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571347"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 632,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 632,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "XM_017019746.1:c.591+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875235.1:n.591+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571348"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 635,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 635,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "XM_017019747.1:c.591+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875236.1:n.591+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571349"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 855,
          "referenceAllele": "A",
          "start": 854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "XM_017019748.1:c.151A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875237.1:p.Ser51Gly",
        "hgvsWellDefined": "XP_016875237.1:p.Ser51Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571350"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 660,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 660,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "XM_017019749.1:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875238.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571351"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 198,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 198,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "XM_017019750.1:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875239.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571352"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 633,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 633,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "XR_001748833.1:n.633+4A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596775"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 228,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 228,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_000319.5:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000310.2:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674789"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825774686",
      "coordinates": [
        {
          "allele": "G",
          "end": 232,
          "referenceAllele": "A",
          "start": 231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001131023.2:c.151A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124495.1:p.Ser51Gly",
        "hgvsWellDefined": "NP_001124495.1:p.Ser51Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677195"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 228,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 228,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001131024.2:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124496.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677196"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 694,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 694,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001131025.2:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124497.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677197"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 677,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 677,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001131026.2:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124498.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677198"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 458,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 458,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001300789.3:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287718.2:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683172"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 321,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 321,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351124.3:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338053.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688655"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 482,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 482,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351126.2:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338055.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688657"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 423,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 423,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351127.2:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338056.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688658"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 301,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 301,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351128.2:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338057.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688659"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 694,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 694,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351130.3:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338059.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688660"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 482,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 482,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351131.2:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338060.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688661"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 228,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 228,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351132.2:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338061.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688662",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675855.1:c.147+4A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001351132.2:c.147+4A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000502374.1:n.147+4A>G"
          },
          "RefSeq": {
            "hgvs": "NP_001338061.1:n.147+4A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 423,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 423,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351133.2:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338062.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688663"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 301,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 301,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351134.2:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338063.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688664"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827593280",
      "coordinates": [
        {
          "allele": "G",
          "end": 462,
          "referenceAllele": "A",
          "start": 461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351135.3:c.151A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338064.2:p.Ser51Gly",
        "hgvsWellDefined": "NP_001338064.2:p.Ser51Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688665"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 228,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 228,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351136.2:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338065.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688666"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 458,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 458,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351137.3:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338066.2:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688667"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741864612",
      "coordinates": [
        {
          "allele": "G",
          "end": 232,
          "referenceAllele": "A",
          "start": 231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351138.2:c.151A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338067.1:p.Ser51Gly",
        "hgvsWellDefined": "NP_001338067.1:p.Ser51Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688668"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 228,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 228,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351139.2:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338068.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688669"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 423,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 423,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351140.2:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338069.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688670"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 226,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 226,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001374645.1:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361574.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693333"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 228,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 228,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001374646.1:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361575.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693334"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 839,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 839,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001374647.2:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361576.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693335"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 839,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 839,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001374648.2:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361577.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693336"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 839,
          "endIntronDirection": "+",
          "endIntronOffset": 4,
          "referenceAllele": "A",
          "start": 839,
          "startIntronDirection": "+",
          "startIntronOffset": 3
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001374649.2:c.147+4A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361578.1:n.147+4A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693337"
    }
  ],
  "type": "nucleotide"
}