{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6426199",
  "communityStandardTitle": [
    "NM_001351132.2(PEX5):c.591G>A (p.Thr197=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=491582[alleleid]",
        "alleleId": 491582,
        "preferredName": "NM_001351132.2(PEX5):c.591G>A (p.Thr197=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/500158",
        "RCV": [
          "RCV000597574",
          "RCV001406498"
        ],
        "variationId": 500158
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-7354386-G-A",
        "id": "12-7354386-G-A",
        "variant": "12:7354386 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.7354386G>A?assembly=hg19",
        "id": "chr12:g.7354386G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.7201790G>A?assembly=hg38",
        "id": "chr12:g.7201790G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/146024341",
        "rs": 146024341
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-7354386-G-A?dataset=gnomad_r2_1",
        "id": "12-7354386-G-A",
        "variant": "12:7354386 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-7201790-G-A?dataset=gnomad_r3",
        "id": "12-7201790-G-A",
        "variant": "12:7201790 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-7201790-G-A?dataset=gnomad_r4",
        "id": "12-7201790-G-A",
        "variant": "12:7201790 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 7201790,
          "referenceAllele": "G",
          "start": 7201789
        }
      ],
      "hgvs": [
        "NC_000012.12:g.7201790G>A",
        "CM000674.2:g.7201790G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 7354386,
          "referenceAllele": "G",
          "start": 7354385
        }
      ],
      "hgvs": [
        "NC_000012.11:g.7354386G>A",
        "CM000674.1:g.7354386G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 7245653,
          "referenceAllele": "G",
          "start": 7245652
        }
      ],
      "hgvs": [
        "NC_000012.10:g.7245653G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 17628,
          "referenceAllele": "G",
          "start": 17627
        }
      ],
      "hgvs": [
        "NG_008448.1:g.17628G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001104"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 672,
          "referenceAllele": "G",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "ENST00000675855.1:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502374.1:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775621",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675855.1:c.591G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001351132.2:c.591G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000502374.1:p.Thr197="
          },
          "RefSeq": {
            "hgvs": "NP_001338061.1:p.Thr197="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 774,
          "referenceAllele": "G",
          "start": 773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "ENST00000266563.9:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000266563.5:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251916"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 608,
          "referenceAllele": "G",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "ENST00000266564.7:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000266564.3:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251917"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 913,
          "referenceAllele": "G",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "ENST00000396637.7:c.636G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379877.3:p.Thr212="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277365"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 743,
          "referenceAllele": "G",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "ENST00000412720.6:c.654G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391601.2:p.Thr218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282732"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1109,
          "referenceAllele": "G",
          "start": 1108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "ENST00000420616.6:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410159.2:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286398"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 716,
          "referenceAllele": "G",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "ENST00000434354.6:c.636G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407401.2:p.Thr212="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292984"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1171,
          "referenceAllele": "G",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "ENST00000455147.6:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400647.2:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302906"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 570,
          "referenceAllele": "G",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "ENST00000536883.5:c.342G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441553.1:p.Thr114="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360488"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 521,
          "referenceAllele": "G",
          "start": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "ENST00000537873.5:c.504G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437938.1:p.Thr168="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 272,
          "referenceAllele": "G",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "ENST00000539304.1:n.272G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS361792"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 694,
          "referenceAllele": "G",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "ENST00000542539.5:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439025.1:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363516"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 534,
          "referenceAllele": "G",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "ENST00000543974.5:c.342G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438772.1:p.Thr114="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364322"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 406,
          "referenceAllele": "G",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "ENST00000545220.1:n.406G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364993"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 615,
          "referenceAllele": "G",
          "start": 614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "ENST00000545574.5:c.555G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443500.1:p.Thr185="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365170"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 520,
          "referenceAllele": "G",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "ENST00000545845.1:c.342G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440711.1:p.Thr114="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365315"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825120488",
      "coordinates": [
        {
          "allele": "A",
          "end": 607,
          "referenceAllele": "G",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_000319.4:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000310.2:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006383"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825774819",
      "coordinates": [
        {
          "allele": "A",
          "end": 717,
          "referenceAllele": "G",
          "start": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001131023.1:c.636G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124495.1:p.Thr212="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012173"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825775176",
      "coordinates": [
        {
          "allele": "A",
          "end": 672,
          "referenceAllele": "G",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001131024.1:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124496.1:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825775691",
      "coordinates": [
        {
          "allele": "A",
          "end": 1138,
          "referenceAllele": "G",
          "start": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001131025.1:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124497.1:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012175"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825776231",
      "coordinates": [
        {
          "allele": "A",
          "end": 1171,
          "referenceAllele": "G",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001131026.1:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124498.1:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012176"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 743,
          "referenceAllele": "G",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001300789.1:c.654G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287718.1:p.Thr218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024849"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 738,
          "referenceAllele": "G",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "XM_005253455.1:c.654G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253512.1:p.Thr218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060293"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 758,
          "referenceAllele": "G",
          "start": 757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "XM_011520793.1:c.699G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519095.1:p.Thr233="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087958"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 758,
          "referenceAllele": "G",
          "start": 757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "XM_011520794.1:c.699G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519096.1:p.Thr233="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087959"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1149,
          "referenceAllele": "G",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "XM_011520795.1:c.636G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519097.1:p.Thr212="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087960"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1211,
          "referenceAllele": "G",
          "start": 1210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "XM_011520796.1:c.636G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519098.1:p.Thr212="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087961"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 642,
          "referenceAllele": "G",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "XM_011520797.1:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519099.1:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087962"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 851,
          "referenceAllele": "G",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "XM_011520798.1:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519100.1:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087963"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 922,
          "referenceAllele": "G",
          "start": 921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "XM_011520799.1:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519101.1:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087964"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 737,
          "referenceAllele": "G",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "XM_011520800.1:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519102.1:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087965"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 757,
          "referenceAllele": "G",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "XM_011520801.1:c.699G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519103.1:p.Thr233="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087966"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 486,
          "referenceAllele": "G",
          "start": 485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "XM_011520802.1:c.342G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519104.1:p.Thr114="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087967"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827588464",
      "coordinates": [
        {
          "allele": "A",
          "end": 733,
          "referenceAllele": "G",
          "start": 732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351124.1:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338053.1:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519927"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827588994",
      "coordinates": [
        {
          "allele": "A",
          "end": 976,
          "referenceAllele": "G",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351126.1:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338055.1:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519929"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827589523",
      "coordinates": [
        {
          "allele": "A",
          "end": 867,
          "referenceAllele": "G",
          "start": 866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351127.1:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338056.1:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519930"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827590053",
      "coordinates": [
        {
          "allele": "A",
          "end": 745,
          "referenceAllele": "G",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351128.1:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338057.1:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519931"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827590584",
      "coordinates": [
        {
          "allele": "A",
          "end": 979,
          "referenceAllele": "G",
          "start": 978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351130.1:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338059.1:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519932"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827591114",
      "coordinates": [
        {
          "allele": "A",
          "end": 976,
          "referenceAllele": "G",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351131.1:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338060.1:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519933"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827591688",
      "coordinates": [
        {
          "allele": "A",
          "end": 672,
          "referenceAllele": "G",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351132.1:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338061.1:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519934"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827592261",
      "coordinates": [
        {
          "allele": "A",
          "end": 867,
          "referenceAllele": "G",
          "start": 866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351133.1:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338062.1:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519935"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827592836",
      "coordinates": [
        {
          "allele": "A",
          "end": 745,
          "referenceAllele": "G",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351134.1:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338063.1:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519936"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 788,
          "referenceAllele": "G",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351135.1:c.699G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338064.1:p.Thr233="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519937"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827593945",
      "coordinates": [
        {
          "allele": "A",
          "end": 672,
          "referenceAllele": "G",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351136.1:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338065.1:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519938"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 743,
          "referenceAllele": "G",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351137.1:c.654G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338066.1:p.Thr218="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519939"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827594977",
      "coordinates": [
        {
          "allele": "A",
          "end": 717,
          "referenceAllele": "G",
          "start": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351138.1:c.636G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338067.1:p.Thr212="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519940"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827595500",
      "coordinates": [
        {
          "allele": "A",
          "end": 672,
          "referenceAllele": "G",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351139.1:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338068.1:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519941"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827596025",
      "coordinates": [
        {
          "allele": "A",
          "end": 867,
          "referenceAllele": "G",
          "start": 866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351140.1:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338069.1:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519942"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 732,
          "referenceAllele": "G",
          "start": 731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "XM_011520793.2:c.699G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519095.1:p.Thr233="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545879"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 494,
          "referenceAllele": "G",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "XM_011520802.2:c.342G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519104.1:p.Thr114="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545880"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1076,
          "referenceAllele": "G",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "XM_017019744.1:c.1035G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875233.1:p.Thr345="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571346"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1077,
          "referenceAllele": "G",
          "start": 1076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "XM_017019745.1:c.1035G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875234.1:p.Thr345="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571347"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1076,
          "referenceAllele": "G",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "XM_017019746.1:c.1035G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875235.1:p.Thr345="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1079,
          "referenceAllele": "G",
          "start": 1078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "XM_017019747.1:c.1035G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875236.1:p.Thr345="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571349"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1340,
          "referenceAllele": "G",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "XM_017019748.1:c.636G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875237.1:p.Thr212="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571350"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1104,
          "referenceAllele": "G",
          "start": 1103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "XM_017019749.1:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875238.1:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 642,
          "referenceAllele": "G",
          "start": 641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "XM_017019750.1:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875239.1:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571352"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1077,
          "referenceAllele": "G",
          "start": 1076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "XR_001748833.1:n.1077G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596775"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825120488",
      "coordinates": [
        {
          "allele": "A",
          "end": 672,
          "referenceAllele": "G",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_000319.5:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000310.2:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674789"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825774819",
      "coordinates": [
        {
          "allele": "A",
          "end": 717,
          "referenceAllele": "G",
          "start": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001131023.2:c.636G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124495.1:p.Thr212="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677195"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825775176",
      "coordinates": [
        {
          "allele": "A",
          "end": 672,
          "referenceAllele": "G",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001131024.2:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124496.1:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677196"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825775691",
      "coordinates": [
        {
          "allele": "A",
          "end": 1138,
          "referenceAllele": "G",
          "start": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001131025.2:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124497.1:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677197"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825776231",
      "coordinates": [
        {
          "allele": "A",
          "end": 1121,
          "referenceAllele": "G",
          "start": 1120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001131026.2:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124498.1:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677198"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826850742",
      "coordinates": [
        {
          "allele": "A",
          "end": 902,
          "referenceAllele": "G",
          "start": 901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001300789.3:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287718.2:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683172"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827588464",
      "coordinates": [
        {
          "allele": "A",
          "end": 765,
          "referenceAllele": "G",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351124.3:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338053.1:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688655"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827588994",
      "coordinates": [
        {
          "allele": "A",
          "end": 926,
          "referenceAllele": "G",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351126.2:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338055.1:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688657"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827589523",
      "coordinates": [
        {
          "allele": "A",
          "end": 867,
          "referenceAllele": "G",
          "start": 866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351127.2:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338056.1:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688658"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827590053",
      "coordinates": [
        {
          "allele": "A",
          "end": 745,
          "referenceAllele": "G",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351128.2:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338057.1:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688659"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827590584",
      "coordinates": [
        {
          "allele": "A",
          "end": 1138,
          "referenceAllele": "G",
          "start": 1137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351130.3:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338059.1:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688660"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827591114",
      "coordinates": [
        {
          "allele": "A",
          "end": 926,
          "referenceAllele": "G",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351131.2:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338060.1:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688661"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827591688",
      "coordinates": [
        {
          "allele": "A",
          "end": 672,
          "referenceAllele": "G",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351132.2:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338061.1:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688662",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000675855.1:c.591G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001351132.2:c.591G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000502374.1:p.Thr197="
          },
          "RefSeq": {
            "hgvs": "NP_001338061.1:p.Thr197="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827592261",
      "coordinates": [
        {
          "allele": "A",
          "end": 867,
          "referenceAllele": "G",
          "start": 866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351133.2:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338062.1:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688663"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827592836",
      "coordinates": [
        {
          "allele": "A",
          "end": 745,
          "referenceAllele": "G",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351134.2:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338063.1:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688664"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827593416",
      "coordinates": [
        {
          "allele": "A",
          "end": 947,
          "referenceAllele": "G",
          "start": 946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351135.3:c.636G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338064.2:p.Thr212="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688665"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827593945",
      "coordinates": [
        {
          "allele": "A",
          "end": 672,
          "referenceAllele": "G",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351136.2:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338065.1:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688666"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827594515",
      "coordinates": [
        {
          "allele": "A",
          "end": 902,
          "referenceAllele": "G",
          "start": 901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351137.3:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338066.2:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688667"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827594977",
      "coordinates": [
        {
          "allele": "A",
          "end": 717,
          "referenceAllele": "G",
          "start": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351138.2:c.636G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338067.1:p.Thr212="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688668"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827595500",
      "coordinates": [
        {
          "allele": "A",
          "end": 672,
          "referenceAllele": "G",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351139.2:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338068.1:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688669"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827596025",
      "coordinates": [
        {
          "allele": "A",
          "end": 867,
          "referenceAllele": "G",
          "start": 866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001351140.2:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338069.1:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688670"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828531110",
      "coordinates": [
        {
          "allele": "A",
          "end": 670,
          "referenceAllele": "G",
          "start": 669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001374645.1:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361574.1:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693333"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828531640",
      "coordinates": [
        {
          "allele": "A",
          "end": 672,
          "referenceAllele": "G",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001374646.1:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361575.1:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693334"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828532170",
      "coordinates": [
        {
          "allele": "A",
          "end": 1283,
          "referenceAllele": "G",
          "start": 1282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001374647.2:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361576.1:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693335"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828532743",
      "coordinates": [
        {
          "allele": "A",
          "end": 1283,
          "referenceAllele": "G",
          "start": 1282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001374648.2:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361577.1:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693336"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828533224",
      "coordinates": [
        {
          "allele": "A",
          "end": 1283,
          "referenceAllele": "G",
          "start": 1282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009719",
      "geneNCBI_id": 5830,
      "geneSymbol": "PEX5",
      "hgvs": [
        "NM_001374649.2:c.591G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361578.1:p.Thr197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693337"
    }
  ],
  "type": "nucleotide"
}