{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA705345",
  "communityStandardTitle": [
    "NM_205861.3(DHDDS):c.441-24A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=481160[alleleid]",
        "alleleId": 481160,
        "preferredName": "NM_205861.3(DHDDS):c.441-24A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/488195",
        "RCV": [
          "RCV000578121",
          "RCV001860002"
        ],
        "variationId": 488195
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-26774026-A-G",
        "id": "1-26774026-A-G",
        "variant": "1:26774026 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.26774026A>G?assembly=hg19",
        "id": "chr1:g.26774026A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.26447535A>G?assembly=hg38",
        "id": "chr1:g.26447535A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/764831063",
        "rs": 764831063
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-26774026-A-G?dataset=gnomad_r2_1",
        "id": "1-26774026-A-G",
        "variant": "1:26774026 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-26447535-A-G?dataset=gnomad_r3",
        "id": "1-26447535-A-G",
        "variant": "1:26447535 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-26447535-A-G?dataset=gnomad_r4",
        "id": "1-26447535-A-G",
        "variant": "1:26447535 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 26447535,
          "referenceAllele": "A",
          "start": 26447534
        }
      ],
      "hgvs": [
        "NC_000001.11:g.26447535A>G",
        "CM000663.2:g.26447535A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 26774026,
          "referenceAllele": "A",
          "start": 26774025
        }
      ],
      "hgvs": [
        "NC_000001.10:g.26774026A>G",
        "CM000663.1:g.26774026A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 26646613,
          "referenceAllele": "A",
          "start": 26646612
        }
      ],
      "hgvs": [
        "NC_000001.9:g.26646613A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 20254,
          "referenceAllele": "A",
          "start": 20253
        }
      ],
      "hgvs": [
        "NG_029786.1:g.20254A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004658"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 606,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "A",
          "start": 606,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020603",
      "geneNCBI_id": 79947,
      "geneSymbol": "DHDDS",
      "hgvs": [
        "ENST00000528557.6:c.441-24A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515248.1:n.441-24A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905685"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 530,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "A",
          "start": 530,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020603",
      "geneNCBI_id": 79947,
      "geneSymbol": "DHDDS",
      "hgvs": [
        "ENST00000703198.1:c.441-24A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515227.1:n.441-24A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911616"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 400,
          "endIntronDirection": "+",
          "endIntronOffset": 4662,
          "referenceAllele": "A",
          "start": 400,
          "startIntronDirection": "+",
          "startIntronOffset": 4661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020603",
      "geneNCBI_id": 79947,
      "geneSymbol": "DHDDS",
      "hgvs": [
        "ENST00000703199.1:c.323+4662A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515228.1:n.323+4662A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911617"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1072,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "A",
          "start": 1072,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020603",
      "geneNCBI_id": 79947,
      "geneSymbol": "DHDDS",
      "hgvs": [
        "ENST00000703200.1:c.*199-24A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515229.1:n.*199-24A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911618"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2143,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "A",
          "start": 2143,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020603",
      "geneNCBI_id": 79947,
      "geneSymbol": "DHDDS",
      "hgvs": [
        "ENST00000703201.1:c.*1387-24A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515230.1:n.*1387-24A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911619"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 256,
          "endIntronDirection": "-",
          "endIntronOffset": 5945,
          "referenceAllele": "A",
          "start": 256,
          "startIntronDirection": "-",
          "startIntronOffset": 5946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020603",
      "geneNCBI_id": 79947,
      "geneSymbol": "DHDDS",
      "hgvs": [
        "ENST00000703202.1:c.181-5946A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515231.1:n.181-5946A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911620"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1764,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "A",
          "start": 1764,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020603",
      "geneNCBI_id": 79947,
      "geneSymbol": "DHDDS",
      "hgvs": [
        "ENST00000703203.1:c.*1387-24A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515232.1:n.*1387-24A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911621"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 543,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "A",
          "start": 543,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020603",
      "geneNCBI_id": 79947,
      "geneSymbol": "DHDDS",
      "hgvs": [
        "ENST00000703262.1:c.441-24A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515247.1:n.441-24A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911640"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 619,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "A",
          "start": 619,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020603",
      "geneNCBI_id": 79947,
      "geneSymbol": "DHDDS",
      "hgvs": [
        "ENST00000703263.1:c.441-24A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515249.1:n.441-24A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911641"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 768,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "A",
          "start": 768,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020603",
      "geneNCBI_id": 79947,
      "geneSymbol": "DHDDS",
      "hgvs": [
        "ENST00000703264.1:n.769-24A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911642"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 551,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "A",
          "start": 551,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020603",
      "geneNCBI_id": 79947,
      "geneSymbol": "DHDDS",
      "hgvs": [
        "ENST00000236342.12:c.441-24A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000236342.7:n.441-24A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740983",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000236342.12:c.441-24A>G"
          },
          "RefSeq": {
            "hgvs": "NM_205861.3:c.441-24A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000236342.7:n.441-24A>G"
          },
          "RefSeq": {
            "hgvs": "NP_995583.1:n.441-24A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 533,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "A",
          "start": 533,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020603",
      "geneNCBI_id": 79947,
      "geneSymbol": "DHDDS",
      "hgvs": [
        "ENST00000236342.11:c.441-24A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000236342.7:n.441-24A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248968"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 517,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "A",
          "start": 517,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020603",
      "geneNCBI_id": 79947,
      "geneSymbol": "DHDDS",
      "hgvs": [
        "ENST00000360009.6:c.441-24A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353104.2:n.441-24A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264983"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 530,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "A",
          "start": 530,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020603",
      "geneNCBI_id": 79947,
      "geneSymbol": "DHDDS",
      "hgvs": [
        "ENST00000374185.7:c.441-24A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363300.3:n.441-24A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270108"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 69,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "A",
          "start": 69,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020603",
      "geneNCBI_id": 79947,
      "geneSymbol": "DHDDS",
      "hgvs": [
        "ENST00000416052.1:c.70-24A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS284285"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 556,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "A",
          "start": 556,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020603",
      "geneNCBI_id": 79947,
      "geneSymbol": "DHDDS",
      "hgvs": [
        "ENST00000427245.6:c.441-24A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399177.2:n.441-24A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289607"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 378,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "A",
          "start": 378,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020603",
      "geneNCBI_id": 79947,
      "geneSymbol": "DHDDS",
      "hgvs": [
        "ENST00000430232.5:c.324-24A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397584.1:n.324-24A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291044"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 155,
          "endIntronDirection": "+",
          "endIntronOffset": 1103,
          "referenceAllele": "A",
          "start": 155,
          "startIntronDirection": "+",
          "startIntronOffset": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020603",
      "geneNCBI_id": 79947,
      "geneSymbol": "DHDDS",
      "hgvs": [
        "ENST00000431933.5:c.155+1103A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399781.1:n.155+1103A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291855"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 613,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "A",
          "start": 613,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020603",
      "geneNCBI_id": 79947,
      "geneSymbol": "DHDDS",
      "hgvs": [
        "ENST00000434391.6:c.*242-24A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403529.2:n.*242-24A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 624,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "A",
          "start": 624,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020603",
      "geneNCBI_id": 79947,
      "geneSymbol": "DHDDS",
      "hgvs": [
        "ENST00000436153.6:c.441-24A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405604.2:n.441-24A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293841"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 533,
          "endIntronDirection": "+",
          "endIntronOffset": 1103,
          "referenceAllele": "A",
          "start": 533,
          "startIntronDirection": "+",
          "startIntronOffset": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020603",
      "geneNCBI_id": 79947,
      "geneSymbol": "DHDDS",
      "hgvs": [
        "ENST00000525682.6:c.440+1103A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434984.1:n.440+1103A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351665"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 415,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "A",
          "start": 415,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020603",
      "geneNCBI_id": 79947,
      "geneSymbol": "DHDDS",
      "hgvs": [
        "ENST00000526219.5:c.324-24A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434219.1:n.324-24A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352121"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 525,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "A",
          "start": 525,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020603",
      "geneNCBI_id": 79947,
      "geneSymbol": "DHDDS",
      "hgvs": [
        "ENST00000533087.5:c.441-24A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436119.1:n.441-24A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS357909"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 590,
          "endIntronDirection": "+",
          "endIntronOffset": 1103,
          "referenceAllele": "A",
          "start": 590,
          "startIntronDirection": "+",
          "startIntronOffset": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020603",
      "geneNCBI_id": 79947,
      "geneSymbol": "DHDDS",
      "hgvs": [
        "NM_001243564.1:c.440+1103A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230493.1:n.440+1103A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018540"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 473,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "A",
          "start": 473,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020603",
      "geneNCBI_id": 79947,
      "geneSymbol": "DHDDS",
      "hgvs": [
        "NM_001243565.1:c.324-24A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230494.1:n.324-24A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018541"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 590,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "A",
          "start": 590,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020603",
      "geneNCBI_id": 79947,
      "geneSymbol": "DHDDS",
      "hgvs": [
        "NM_024887.3:c.441-24A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_079163.2:n.441-24A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038093"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 590,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "A",
          "start": 590,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020603",
      "geneNCBI_id": 79947,
      "geneSymbol": "DHDDS",
      "hgvs": [
        "NM_205861.2:c.441-24A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_995583.1:n.441-24A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045269"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 646,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "A",
          "start": 646,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020603",
      "geneNCBI_id": 79947,
      "geneSymbol": "DHDDS",
      "hgvs": [
        "XM_006710912.1:c.441-24A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710975.1:n.441-24A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068865"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 528,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "A",
          "start": 528,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020603",
      "geneNCBI_id": 79947,
      "geneSymbol": "DHDDS",
      "hgvs": [
        "XM_006710913.1:c.441-24A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710976.1:n.441-24A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068866"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 525,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "A",
          "start": 525,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020603",
      "geneNCBI_id": 79947,
      "geneSymbol": "DHDDS",
      "hgvs": [
        "XM_006710914.1:c.441-24A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710977.1:n.441-24A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068867"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 562,
          "endIntronDirection": "+",
          "endIntronOffset": 1103,
          "referenceAllele": "A",
          "start": 562,
          "startIntronDirection": "+",
          "startIntronOffset": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020603",
      "geneNCBI_id": 79947,
      "geneSymbol": "DHDDS",
      "hgvs": [
        "XM_006710915.1:c.440+1103A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710978.1:n.440+1103A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068868"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 639,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "A",
          "start": 639,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020603",
      "geneNCBI_id": 79947,
      "geneSymbol": "DHDDS",
      "hgvs": [
        "XM_006710916.1:c.162-24A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710979.1:n.162-24A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068869"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 592,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "A",
          "start": 592,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020603",
      "geneNCBI_id": 79947,
      "geneSymbol": "DHDDS",
      "hgvs": [
        "XM_006710917.1:c.162-24A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710980.1:n.162-24A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068870"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 548,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "A",
          "start": 548,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020603",
      "geneNCBI_id": 79947,
      "geneSymbol": "DHDDS",
      "hgvs": [
        "XM_006710918.1:c.162-24A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710981.1:n.162-24A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068871"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 592,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "A",
          "start": 592,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020603",
      "geneNCBI_id": 79947,
      "geneSymbol": "DHDDS",
      "hgvs": [
        "XM_006710919.1:c.162-24A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710982.1:n.162-24A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068872"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 625,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "A",
          "start": 625,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020603",
      "geneNCBI_id": 79947,
      "geneSymbol": "DHDDS",
      "hgvs": [
        "XM_011542183.1:c.441-24A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540485.1:n.441-24A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109116"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 646,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "A",
          "start": 646,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020603",
      "geneNCBI_id": 79947,
      "geneSymbol": "DHDDS",
      "hgvs": [
        "XM_011542184.1:c.441-24A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540486.1:n.441-24A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109117"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 646,
          "endIntronDirection": "+",
          "endIntronOffset": 1103,
          "referenceAllele": "A",
          "start": 646,
          "startIntronDirection": "+",
          "startIntronOffset": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020603",
      "geneNCBI_id": 79947,
      "geneSymbol": "DHDDS",
      "hgvs": [
        "XM_011542185.1:c.440+1103A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540487.1:n.440+1103A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109118"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 646,
          "endIntronDirection": "+",
          "endIntronOffset": 1103,
          "referenceAllele": "A",
          "start": 646,
          "startIntronDirection": "+",
          "startIntronOffset": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020603",
      "geneNCBI_id": 79947,
      "geneSymbol": "DHDDS",
      "hgvs": [
        "XM_011542186.1:c.440+1103A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011540488.1:n.440+1103A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS109119"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 613,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "A",
          "start": 613,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020603",
      "geneNCBI_id": 79947,
      "geneSymbol": "DHDDS",
      "hgvs": [
        "NM_001319959.1:c.162-24A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306888.1:n.162-24A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513412"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 551,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "A",
          "start": 551,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020603",
      "geneNCBI_id": 79947,
      "geneSymbol": "DHDDS",
      "hgvs": [
        "NM_205861.3:c.441-24A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_995583.1:n.441-24A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673257",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000236342.12:c.441-24A>G"
          },
          "RefSeq": {
            "hgvs": "NM_205861.3:c.441-24A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000236342.7:n.441-24A>G"
          },
          "RefSeq": {
            "hgvs": "NP_995583.1:n.441-24A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 551,
          "endIntronDirection": "+",
          "endIntronOffset": 1103,
          "referenceAllele": "A",
          "start": 551,
          "startIntronDirection": "+",
          "startIntronOffset": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020603",
      "geneNCBI_id": 79947,
      "geneSymbol": "DHDDS",
      "hgvs": [
        "NM_001243564.2:c.440+1103A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230493.1:n.440+1103A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714485"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 434,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "A",
          "start": 434,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020603",
      "geneNCBI_id": 79947,
      "geneSymbol": "DHDDS",
      "hgvs": [
        "NM_001243565.2:c.324-24A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230494.1:n.324-24A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714486"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 574,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "A",
          "start": 574,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020603",
      "geneNCBI_id": 79947,
      "geneSymbol": "DHDDS",
      "hgvs": [
        "NM_001319959.2:c.162-24A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001306888.1:n.162-24A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717719"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 551,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "A",
          "start": 551,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020603",
      "geneNCBI_id": 79947,
      "geneSymbol": "DHDDS",
      "hgvs": [
        "NM_024887.4:c.441-24A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_079163.2:n.441-24A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728686"
    }
  ],
  "type": "nucleotide"
}