{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7266682",
  "communityStandardTitle": [
    "NM_005050.4(ABCD4):c.1588C>T (p.Gln530Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=569014[alleleid]",
        "alleleId": 569014,
        "preferredName": "NM_005050.4(ABCD4):c.1588C>T (p.Gln530Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/583152",
        "RCV": [
          "RCV000707417",
          "RCV002265867"
        ],
        "variationId": 583152
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/14-74754561-G-A",
        "id": "14-74754561-G-A",
        "variant": "14:74754561 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.74754561G>A?assembly=hg19",
        "id": "chr14:g.74754561G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.74287858G>A?assembly=hg38",
        "id": "chr14:g.74287858G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/767795583",
        "rs": 767795583
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-74754561-G-A?dataset=gnomad_r2_1",
        "id": "14-74754561-G-A",
        "variant": "14:74754561 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-74287858-G-A?dataset=gnomad_r4",
        "id": "14-74287858-G-A",
        "variant": "14:74287858 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 74287858,
          "referenceAllele": "G",
          "start": 74287857
        }
      ],
      "hgvs": [
        "NC_000014.9:g.74287858G>A",
        "CM000676.2:g.74287858G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 74754561,
          "referenceAllele": "G",
          "start": 74754560
        }
      ],
      "hgvs": [
        "NC_000014.8:g.74754561G>A",
        "CM000676.1:g.74754561G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 73824314,
          "referenceAllele": "G",
          "start": 73824313
        }
      ],
      "hgvs": [
        "NC_000014.7:g.73824314G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 20207,
          "referenceAllele": "C",
          "start": 20206
        }
      ],
      "hgvs": [
        "NG_032875.1:g.20207C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005248"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1610,
          "referenceAllele": "C",
          "start": 1609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "ENST00000356924.9:c.1588C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349396.4:p.Gln530Ter",
        "hgvsWellDefined": "ENSP00000349396.4:p.Gln530_Glu606delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748864",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356924.9:c.1588C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005050.4:c.1588C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349396.4:p.Gln530Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005041.1:p.Gln530Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1732,
          "referenceAllele": "C",
          "start": 1731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "ENST00000356924.8:c.1588C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349396.4:p.Gln530Ter",
        "hgvsWellDefined": "ENSP00000349396.4:p.Gln530_Glu606delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263923"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 784,
          "referenceAllele": "C",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "ENST00000465085.2:n.784C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308763"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 639,
          "referenceAllele": "C",
          "start": 638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "ENST00000474270.1:c.639C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315818"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 479,
          "referenceAllele": "C",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "ENST00000481348.5:c.479C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321285"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1485,
          "referenceAllele": "C",
          "start": 1484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "ENST00000481935.5:c.*1289C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436782.1:n.*1289C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS321751"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1776,
          "referenceAllele": "C",
          "start": 1775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "ENST00000484380.2:n.1776C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323646"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1493,
          "referenceAllele": "C",
          "start": 1492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "ENST00000553486.5:c.*1289C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450611.1:n.*1289C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369891"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1475,
          "referenceAllele": "C",
          "start": 1474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "ENST00000553745.5:c.*1298C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451778.1:n.*1298C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370101"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 135,
          "referenceAllele": "C",
          "start": 134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "ENST00000555904.1:c.135C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371812"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 479,
          "referenceAllele": "C",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "ENST00000556517.1:c.479C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS372286"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891849032",
      "coordinates": [
        {
          "allele": "T",
          "end": 1740,
          "referenceAllele": "C",
          "start": 1739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_005050.3:c.1588C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005041.1:p.Gln530Ter",
        "hgvsWellDefined": "NP_005041.1:p.Gln530_Glu606delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1612,
          "referenceAllele": "C",
          "start": 1611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NR_003256.2:n.1612C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS046236"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1668,
          "referenceAllele": "C",
          "start": 1667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_005267939.2:c.1174C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267996.1:p.Gln392Ter",
        "hgvsWellDefined": "XP_005267996.1:p.Gln392_Glu468delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065556"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1486,
          "referenceAllele": "C",
          "start": 1485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_005267940.2:c.1174C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267997.1:p.Gln392Ter",
        "hgvsWellDefined": "XP_005267997.1:p.Gln392_Glu468delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065557"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1477,
          "referenceAllele": "C",
          "start": 1476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_005267941.3:c.1174C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267998.1:p.Gln392Ter",
        "hgvsWellDefined": "XP_005267998.1:p.Gln392_Glu468delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065558"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1380,
          "referenceAllele": "C",
          "start": 1379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_005267942.3:c.1174C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267999.1:p.Gln392Ter",
        "hgvsWellDefined": "XP_005267999.1:p.Gln392_Glu468delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065559"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1384,
          "referenceAllele": "C",
          "start": 1383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_005267946.2:c.1111C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268003.1:p.Gln371Ter",
        "hgvsWellDefined": "XP_005268003.1:p.Gln371_Glu447delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065560"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1598,
          "referenceAllele": "C",
          "start": 1597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_005267949.2:c.1111C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268006.1:p.Gln371Ter",
        "hgvsWellDefined": "XP_005268006.1:p.Gln371_Glu447delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065561"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1328,
          "referenceAllele": "C",
          "start": 1327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_005267953.2:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268010.1:p.Gln267Ter",
        "hgvsWellDefined": "XP_005268010.1:p.Gln267_Glu343delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065562"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1552,
          "referenceAllele": "C",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_006720223.1:c.1327C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720286.1:p.Gln443Ter",
        "hgvsWellDefined": "XP_006720286.1:p.Gln443_Glu519delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073555"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1403,
          "referenceAllele": "C",
          "start": 1402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_011537041.1:c.1315C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535343.1:p.Gln439Ter",
        "hgvsWellDefined": "XP_011535343.1:p.Gln439_Glu515delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1342,
          "referenceAllele": "C",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_011537042.1:c.1111C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535344.1:p.Gln371Ter",
        "hgvsWellDefined": "XP_011535344.1:p.Gln371_Glu447delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1195,
          "referenceAllele": "C",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_011537043.1:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535345.1:p.Gln267Ter",
        "hgvsWellDefined": "XP_011535345.1:p.Gln267_Glu343delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1581,
          "referenceAllele": "C",
          "start": 1580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XR_245710.2:n.1581C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117024"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827730054",
      "coordinates": [
        {
          "allele": "T",
          "end": 1614,
          "referenceAllele": "C",
          "start": 1613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353591.1:c.1462C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340520.1:p.Gln488Ter",
        "hgvsWellDefined": "NP_001340520.1:p.Gln488_Glu564delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521789"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827730273",
      "coordinates": [
        {
          "allele": "T",
          "end": 1614,
          "referenceAllele": "C",
          "start": 1613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353592.1:c.1462C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340521.1:p.Gln488Ter",
        "hgvsWellDefined": "NP_001340521.1:p.Gln488_Ala550delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysValProValLeuThrArgMetAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521790"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827730471",
      "coordinates": [
        {
          "allele": "T",
          "end": 1621,
          "referenceAllele": "C",
          "start": 1620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353593.1:c.1327C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340522.1:p.Gln443Ter",
        "hgvsWellDefined": "NP_001340522.1:p.Gln443_Glu519delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521791"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827730653",
      "coordinates": [
        {
          "allele": "T",
          "end": 1570,
          "referenceAllele": "C",
          "start": 1569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353594.1:c.1276C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340523.1:p.Gln426Ter",
        "hgvsWellDefined": "NP_001340523.1:p.Gln426_Ala488delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysValProValLeuThrArgMetAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521792"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827730835",
      "coordinates": [
        {
          "allele": "T",
          "end": 1735,
          "referenceAllele": "C",
          "start": 1734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353595.1:c.1174C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340524.1:p.Gln392Ter",
        "hgvsWellDefined": "NP_001340524.1:p.Gln392_Glu468delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521793"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827731016",
      "coordinates": [
        {
          "allele": "T",
          "end": 1607,
          "referenceAllele": "C",
          "start": 1606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353596.1:c.1174C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340525.1:p.Gln392Ter",
        "hgvsWellDefined": "NP_001340525.1:p.Gln392_Glu468delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521794"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827731174",
      "coordinates": [
        {
          "allele": "T",
          "end": 1556,
          "referenceAllele": "C",
          "start": 1555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353597.1:c.1123C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340526.1:p.Gln375Ter",
        "hgvsWellDefined": "NP_001340526.1:p.Gln375_Glu451delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521795"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827731347",
      "coordinates": [
        {
          "allele": "T",
          "end": 1493,
          "referenceAllele": "C",
          "start": 1492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353598.1:c.1111C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340527.1:p.Gln371Ter",
        "hgvsWellDefined": "NP_001340527.1:p.Gln371_Glu447delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521796"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827731520",
      "coordinates": [
        {
          "allele": "T",
          "end": 1600,
          "referenceAllele": "C",
          "start": 1599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353599.1:c.1111C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340528.1:p.Gln371Ter",
        "hgvsWellDefined": "NP_001340528.1:p.Gln371_Ala433delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysValProValLeuThrArgMetAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521797"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827731690",
      "coordinates": [
        {
          "allele": "T",
          "end": 1612,
          "referenceAllele": "C",
          "start": 1611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353600.1:c.1111C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340529.1:p.Gln371Ter",
        "hgvsWellDefined": "NP_001340529.1:p.Gln371_Ala433delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysValProValLeuThrArgMetAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521798"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827731858",
      "coordinates": [
        {
          "allele": "T",
          "end": 1472,
          "referenceAllele": "C",
          "start": 1471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353601.1:c.1111C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340530.1:p.Gln371Ter",
        "hgvsWellDefined": "NP_001340530.1:p.Gln371_Ala433delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysValProValLeuThrArgMetAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521799"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827731988",
      "coordinates": [
        {
          "allele": "T",
          "end": 1640,
          "referenceAllele": "C",
          "start": 1639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353602.1:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340531.1:p.Gln267Ter",
        "hgvsWellDefined": "NP_001340531.1:p.Gln267_Glu343delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521800"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827732117",
      "coordinates": [
        {
          "allele": "T",
          "end": 1517,
          "referenceAllele": "C",
          "start": 1516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353603.1:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340532.1:p.Gln267Ter",
        "hgvsWellDefined": "NP_001340532.1:p.Gln267_Glu343delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521801"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827732248",
      "coordinates": [
        {
          "allele": "T",
          "end": 1377,
          "referenceAllele": "C",
          "start": 1376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353604.1:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340533.1:p.Gln267Ter",
        "hgvsWellDefined": "NP_001340533.1:p.Gln267_Glu343delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521802"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827732380",
      "coordinates": [
        {
          "allele": "T",
          "end": 1645,
          "referenceAllele": "C",
          "start": 1644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353605.1:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340534.1:p.Gln267Ter",
        "hgvsWellDefined": "NP_001340534.1:p.Gln267_Glu343delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521803"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827732512",
      "coordinates": [
        {
          "allele": "T",
          "end": 1517,
          "referenceAllele": "C",
          "start": 1516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353606.1:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340535.1:p.Gln267Ter",
        "hgvsWellDefined": "NP_001340535.1:p.Gln267_Ala329delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysValProValLeuThrArgMetAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521804"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827732639",
      "coordinates": [
        {
          "allele": "T",
          "end": 1398,
          "referenceAllele": "C",
          "start": 1397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353607.1:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340536.1:p.Gln267Ter",
        "hgvsWellDefined": "NP_001340536.1:p.Gln267_Ala329delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysValProValLeuThrArgMetAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521805"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827732768",
      "coordinates": [
        {
          "allele": "T",
          "end": 1500,
          "referenceAllele": "C",
          "start": 1499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353608.1:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340537.1:p.Gln267Ter",
        "hgvsWellDefined": "NP_001340537.1:p.Gln267_Ala329delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysValProValLeuThrArgMetAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521806"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827732896",
      "coordinates": [
        {
          "allele": "T",
          "end": 1645,
          "referenceAllele": "C",
          "start": 1644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353609.1:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340538.1:p.Gln267Ter",
        "hgvsWellDefined": "NP_001340538.1:p.Gln267_Ala329delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysValProValLeuThrArgMetAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521807"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827733000",
      "coordinates": [
        {
          "allele": "T",
          "end": 1701,
          "referenceAllele": "C",
          "start": 1700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353610.1:c.855C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340539.1:p.Cys285="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521808"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829917209",
      "coordinates": [
        {
          "allele": "T",
          "end": 1600,
          "referenceAllele": "C",
          "start": 1599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_020324.2:c.1111C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_064720.1:p.Gln371Ter",
        "hgvsWellDefined": "NP_064720.1:p.Gln371_Glu447delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525965"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916073673",
      "coordinates": [
        {
          "allele": "T",
          "end": 1740,
          "referenceAllele": "C",
          "start": 1739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_020325.2:c.1588C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_064730.1:p.Gln530Ter",
        "hgvsWellDefined": "NP_064730.1:p.Gln530_Ala592delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysValProValLeuThrArgMetAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525966"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1548,
          "referenceAllele": "C",
          "start": 1547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NR_148466.1:n.1548C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531184"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1329,
          "referenceAllele": "C",
          "start": 1328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NR_148467.1:n.1329C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531185"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1306,
          "referenceAllele": "C",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NR_148468.1:n.1306C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531186"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1553,
          "referenceAllele": "C",
          "start": 1552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NR_148469.1:n.1553C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531187"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1515,
          "referenceAllele": "C",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NR_148470.1:n.1515C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531188"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1553,
          "referenceAllele": "C",
          "start": 1552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NR_148471.1:n.1553C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531189"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1602,
          "referenceAllele": "C",
          "start": 1601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NR_148472.1:n.1602C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531190"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1529,
          "referenceAllele": "C",
          "start": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NR_148473.1:n.1529C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531191"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1648,
          "referenceAllele": "C",
          "start": 1647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NR_148474.1:n.1648C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531192"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1547,
          "referenceAllele": "C",
          "start": 1546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_005267940.3:c.1174C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267997.1:p.Gln392Ter",
        "hgvsWellDefined": "XP_005267997.1:p.Gln392_Glu468delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536485"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1389,
          "referenceAllele": "C",
          "start": 1388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_005267942.4:c.1174C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267999.1:p.Gln392Ter",
        "hgvsWellDefined": "XP_005267999.1:p.Gln392_Glu468delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536486"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1410,
          "referenceAllele": "C",
          "start": 1409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_011537041.2:c.1315C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535343.1:p.Gln439Ter",
        "hgvsWellDefined": "XP_011535343.1:p.Gln439_Glu515delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1719,
          "referenceAllele": "C",
          "start": 1718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_017021531.2:c.1644C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877020.1:p.Cys548="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572707"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1354,
          "referenceAllele": "C",
          "start": 1353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_017021534.1:c.976C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877023.1:p.Gln326Ter",
        "hgvsWellDefined": "XP_016877023.1:p.Gln326_Glu402delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572708"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1382,
          "referenceAllele": "C",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_017021539.1:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877028.1:p.Gln267Ter",
        "hgvsWellDefined": "XP_016877028.1:p.Gln267_Glu343delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572709"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1296,
          "referenceAllele": "C",
          "start": 1295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_017021540.2:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877029.1:p.Gln267Ter",
        "hgvsWellDefined": "XP_016877029.1:p.Gln267_Glu343delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572710"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1421,
          "referenceAllele": "C",
          "start": 1420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_017021541.2:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877030.1:p.Gln267Ter",
        "hgvsWellDefined": "XP_016877030.1:p.Gln267_Glu343delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572711"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1155,
          "referenceAllele": "C",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_017021542.1:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877031.1:p.Gln267Ter",
        "hgvsWellDefined": "XP_016877031.1:p.Gln267_Glu343delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572712"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1426,
          "referenceAllele": "C",
          "start": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_024449675.1:c.1201C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305443.1:p.Gln401Ter",
        "hgvsWellDefined": "XP_024305443.1:p.Gln401_Glu477delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583222"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1391,
          "referenceAllele": "C",
          "start": 1390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_024449676.1:c.1111C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305444.1:p.Gln371Ter",
        "hgvsWellDefined": "XP_024305444.1:p.Gln371_Glu447delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583223"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1342,
          "referenceAllele": "C",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_024449677.1:c.1111C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305445.1:p.Gln371Ter",
        "hgvsWellDefined": "XP_024305445.1:p.Gln371_Glu447delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583224"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1264,
          "referenceAllele": "C",
          "start": 1263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_024449678.1:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305446.1:p.Gln267Ter",
        "hgvsWellDefined": "XP_024305446.1:p.Gln267_Glu343delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583225"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1290,
          "referenceAllele": "C",
          "start": 1289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_024449679.1:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305447.1:p.Gln267Ter",
        "hgvsWellDefined": "XP_024305447.1:p.Gln267_Glu343delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583226"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1719,
          "referenceAllele": "C",
          "start": 1718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XR_001750476.2:n.1719C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597748"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2091,
          "referenceAllele": "C",
          "start": 2090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XR_001750478.2:n.2091C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1627,
          "referenceAllele": "C",
          "start": 1626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XR_001750480.2:n.1627C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1654,
          "referenceAllele": "C",
          "start": 1653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XR_001750482.1:n.1654C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597752"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1971,
          "referenceAllele": "C",
          "start": 1970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XR_001750484.1:n.1971C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597753"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1613,
          "referenceAllele": "C",
          "start": 1612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XR_002957565.1:n.1613C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603699"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1571,
          "referenceAllele": "C",
          "start": 1570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XR_245710.4:n.1571C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606193"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2183,
          "referenceAllele": "C",
          "start": 2182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XR_943500.3:n.2183C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS613432"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891849032",
      "coordinates": [
        {
          "allele": "T",
          "end": 1610,
          "referenceAllele": "C",
          "start": 1609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_005050.4:c.1588C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005041.1:p.Gln530Ter",
        "hgvsWellDefined": "NP_005041.1:p.Gln530_Glu606delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666788",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356924.9:c.1588C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005050.4:c.1588C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349396.4:p.Gln530Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005041.1:p.Gln530Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827730054",
      "coordinates": [
        {
          "allele": "T",
          "end": 1484,
          "referenceAllele": "C",
          "start": 1483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353591.2:c.1462C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340520.1:p.Gln488Ter",
        "hgvsWellDefined": "NP_001340520.1:p.Gln488_Glu564delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689797"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827730273",
      "coordinates": [
        {
          "allele": "T",
          "end": 1484,
          "referenceAllele": "C",
          "start": 1483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353592.2:c.1462C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340521.1:p.Gln488Ter",
        "hgvsWellDefined": "NP_001340521.1:p.Gln488_Ala550delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysValProValLeuThrArgMetAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689798"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827730471",
      "coordinates": [
        {
          "allele": "T",
          "end": 1491,
          "referenceAllele": "C",
          "start": 1490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353593.2:c.1327C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340522.1:p.Gln443Ter",
        "hgvsWellDefined": "NP_001340522.1:p.Gln443_Glu519delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689799"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827730653",
      "coordinates": [
        {
          "allele": "T",
          "end": 1440,
          "referenceAllele": "C",
          "start": 1439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353594.2:c.1276C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340523.1:p.Gln426Ter",
        "hgvsWellDefined": "NP_001340523.1:p.Gln426_Ala488delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysValProValLeuThrArgMetAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689800"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827730835",
      "coordinates": [
        {
          "allele": "T",
          "end": 1605,
          "referenceAllele": "C",
          "start": 1604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353595.2:c.1174C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340524.1:p.Gln392Ter",
        "hgvsWellDefined": "NP_001340524.1:p.Gln392_Glu468delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689801"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827731016",
      "coordinates": [
        {
          "allele": "T",
          "end": 1477,
          "referenceAllele": "C",
          "start": 1476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353596.2:c.1174C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340525.1:p.Gln392Ter",
        "hgvsWellDefined": "NP_001340525.1:p.Gln392_Glu468delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689802"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827731174",
      "coordinates": [
        {
          "allele": "T",
          "end": 1426,
          "referenceAllele": "C",
          "start": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353597.2:c.1123C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340526.1:p.Gln375Ter",
        "hgvsWellDefined": "NP_001340526.1:p.Gln375_Glu451delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689803"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827731347",
      "coordinates": [
        {
          "allele": "T",
          "end": 1363,
          "referenceAllele": "C",
          "start": 1362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353598.2:c.1111C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340527.1:p.Gln371Ter",
        "hgvsWellDefined": "NP_001340527.1:p.Gln371_Glu447delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689804"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827731520",
      "coordinates": [
        {
          "allele": "T",
          "end": 1470,
          "referenceAllele": "C",
          "start": 1469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353599.2:c.1111C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340528.1:p.Gln371Ter",
        "hgvsWellDefined": "NP_001340528.1:p.Gln371_Ala433delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysValProValLeuThrArgMetAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689805"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827731690",
      "coordinates": [
        {
          "allele": "T",
          "end": 1482,
          "referenceAllele": "C",
          "start": 1481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353600.2:c.1111C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340529.1:p.Gln371Ter",
        "hgvsWellDefined": "NP_001340529.1:p.Gln371_Ala433delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysValProValLeuThrArgMetAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689806"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827731858",
      "coordinates": [
        {
          "allele": "T",
          "end": 1342,
          "referenceAllele": "C",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353601.2:c.1111C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340530.1:p.Gln371Ter",
        "hgvsWellDefined": "NP_001340530.1:p.Gln371_Ala433delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysValProValLeuThrArgMetAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689807"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827731988",
      "coordinates": [
        {
          "allele": "T",
          "end": 1510,
          "referenceAllele": "C",
          "start": 1509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353602.2:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340531.1:p.Gln267Ter",
        "hgvsWellDefined": "NP_001340531.1:p.Gln267_Glu343delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689808"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827732117",
      "coordinates": [
        {
          "allele": "T",
          "end": 1387,
          "referenceAllele": "C",
          "start": 1386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353603.2:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340532.1:p.Gln267Ter",
        "hgvsWellDefined": "NP_001340532.1:p.Gln267_Glu343delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689809"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827732248",
      "coordinates": [
        {
          "allele": "T",
          "end": 1247,
          "referenceAllele": "C",
          "start": 1246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353604.2:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340533.1:p.Gln267Ter",
        "hgvsWellDefined": "NP_001340533.1:p.Gln267_Glu343delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689810"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827732380",
      "coordinates": [
        {
          "allele": "T",
          "end": 1515,
          "referenceAllele": "C",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353605.2:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340534.1:p.Gln267Ter",
        "hgvsWellDefined": "NP_001340534.1:p.Gln267_Glu343delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689811"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827732512",
      "coordinates": [
        {
          "allele": "T",
          "end": 1387,
          "referenceAllele": "C",
          "start": 1386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353606.2:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340535.1:p.Gln267Ter",
        "hgvsWellDefined": "NP_001340535.1:p.Gln267_Ala329delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysValProValLeuThrArgMetAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689812"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827732639",
      "coordinates": [
        {
          "allele": "T",
          "end": 1268,
          "referenceAllele": "C",
          "start": 1267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353607.2:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340536.1:p.Gln267Ter",
        "hgvsWellDefined": "NP_001340536.1:p.Gln267_Ala329delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysValProValLeuThrArgMetAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689813"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827732768",
      "coordinates": [
        {
          "allele": "T",
          "end": 1370,
          "referenceAllele": "C",
          "start": 1369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353608.2:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340537.1:p.Gln267Ter",
        "hgvsWellDefined": "NP_001340537.1:p.Gln267_Ala329delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysValProValLeuThrArgMetAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689814"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827732896",
      "coordinates": [
        {
          "allele": "T",
          "end": 1515,
          "referenceAllele": "C",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353609.2:c.799C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340538.1:p.Gln267Ter",
        "hgvsWellDefined": "NP_001340538.1:p.Gln267_Ala329delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysValProValLeuThrArgMetAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689815"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827733000",
      "coordinates": [
        {
          "allele": "T",
          "end": 1571,
          "referenceAllele": "C",
          "start": 1570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353610.2:c.855C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340539.1:p.Cys285="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689816"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829917209",
      "coordinates": [
        {
          "allele": "T",
          "end": 1470,
          "referenceAllele": "C",
          "start": 1469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_020324.3:c.1111C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_064720.1:p.Gln371Ter",
        "hgvsWellDefined": "NP_064720.1:p.Gln371_Glu447delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysPheHisSerLeuValLeuLysLeuCysGlyGlyGlyArgTrpGluLeuMetArgIleLysValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698215"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916073673",
      "coordinates": [
        {
          "allele": "T",
          "end": 1610,
          "referenceAllele": "C",
          "start": 1609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_020325.3:c.1588C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_064730.1:p.Gln530Ter",
        "hgvsWellDefined": "NP_064730.1:p.Gln530_Ala592delinsArgLeuSerPheAlaArgLeuPheTyrLeuGlnProLysTyrAlaValLeuAspGluAlaThrSerAlaLeuThrGluGluValGluSerGluLeuTyrArgIleGlyGlnGlnLeuGlyMetThrPheIleSerValGlyHisArgGlnSerLeuGluLysValProValLeuThrArgMetAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698216"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1482,
          "referenceAllele": "C",
          "start": 1481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NR_003256.3:n.1482C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701830"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1418,
          "referenceAllele": "C",
          "start": 1417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NR_148466.2:n.1418C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704762"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1199,
          "referenceAllele": "C",
          "start": 1198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NR_148467.2:n.1199C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704763"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1176,
          "referenceAllele": "C",
          "start": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NR_148468.2:n.1176C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704764"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1423,
          "referenceAllele": "C",
          "start": 1422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NR_148469.2:n.1423C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704765"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1385,
          "referenceAllele": "C",
          "start": 1384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NR_148470.2:n.1385C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704766"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1423,
          "referenceAllele": "C",
          "start": 1422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NR_148471.2:n.1423C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1472,
          "referenceAllele": "C",
          "start": 1471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NR_148472.2:n.1472C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704768"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1399,
          "referenceAllele": "C",
          "start": 1398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NR_148473.2:n.1399C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704769"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1518,
          "referenceAllele": "C",
          "start": 1517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NR_148474.2:n.1518C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704770"
    }
  ],
  "type": "nucleotide"
}