{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8202974",
  "communityStandardTitle": [
    "NM_178452.6(DNAAF1):c.1645-2A>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=466828[alleleid]",
        "alleleId": 466828,
        "preferredName": "NM_178452.6(DNAAF1):c.1645-2A>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/455001",
        "RCV": [
          "RCV000554590"
        ],
        "variationId": 455001
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-84208273-A-C",
        "id": "16-84208273-A-C",
        "variant": "16:84208273 A / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.84208273A>C?assembly=hg19",
        "id": "chr16:g.84208273A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.84174667A>C?assembly=hg38",
        "id": "chr16:g.84174667A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/764066045",
        "rs": 764066045
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-84208273-A-C?dataset=gnomad_r2_1",
        "id": "16-84208273-A-C",
        "variant": "16:84208273 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-84174667-A-C?dataset=gnomad_r4",
        "id": "16-84174667-A-C",
        "variant": "16:84174667 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 84174667,
          "referenceAllele": "A",
          "start": 84174666
        }
      ],
      "hgvs": [
        "NC_000016.10:g.84174667A>C",
        "CM000678.2:g.84174667A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 84208273,
          "referenceAllele": "A",
          "start": 84208272
        }
      ],
      "hgvs": [
        "NC_000016.9:g.84208273A>C",
        "CM000678.1:g.84208273A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 82765774,
          "referenceAllele": "A",
          "start": 82765773
        }
      ],
      "hgvs": [
        "NC_000016.8:g.82765774A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 34409,
          "referenceAllele": "A",
          "start": 34408
        }
      ],
      "hgvs": [
        "NG_021174.1:g.34409A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003453"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1777,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1777,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "ENST00000378553.10:c.1645-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367815.5:n.1645-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752101",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378553.10:c.1645-2A>C"
          },
          "RefSeq": {
            "hgvs": "NM_178452.6:c.1645-2A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367815.5:n.1645-2A>C"
          },
          "RefSeq": {
            "hgvs": "NP_848547.4:n.1645-2A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1768,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1768,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "ENST00000378553.9:c.1645-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367815.5:n.1645-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272084"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1587,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1587,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "ENST00000563093.5:c.*200-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457373.1:n.*200-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS377191"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1321,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1321,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "ENST00000563818.5:n.1322-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS377668"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4090,
          "referenceAllele": "A",
          "start": 4089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "ENST00000570298.5:n.4090A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382036"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1825,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1825,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "NM_178452.4:c.1645-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_848547.4:n.1645-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043535"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1824,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1824,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XM_006721129.1:c.1645-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721192.1:n.1645-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073961"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1872,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1872,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XM_011522850.1:c.1693-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521152.1:n.1693-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089992"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1872,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1872,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XM_011522851.1:c.1693-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521153.1:n.1693-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089993"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1824,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1824,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XM_011522852.1:c.1645-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521154.1:n.1645-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089994"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1872,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1872,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XM_011522853.1:c.1693-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521155.1:n.1693-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089995"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1872,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1872,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XM_011522854.1:c.1693-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521156.1:n.1693-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089996"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1872,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1872,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XM_011522855.1:c.1693-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521157.1:n.1693-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089997"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2179,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2179,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XM_011522856.1:c.1432-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521158.1:n.1432-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089998"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1872,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1872,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XM_011522857.1:c.1693-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521159.1:n.1693-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089999"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1872,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1872,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XM_011522858.1:c.1693-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521160.1:n.1693-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090000"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1321,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1321,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XM_011522859.1:c.937-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521161.1:n.937-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1321,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1321,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XM_011522860.1:c.937-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521162.1:n.937-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1123,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1123,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "NM_001318756.1:c.937-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305685.1:n.937-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512999"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1825,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1825,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "NM_178452.5:c.1645-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_848547.4:n.1645-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526835"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1818,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1818,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XM_006721129.3:c.1645-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721192.1:n.1645-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540240"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1866,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1866,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XM_011522853.3:c.1693-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521155.1:n.1693-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546784"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1866,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1866,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XM_011522854.3:c.1693-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521156.1:n.1693-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546785"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1866,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1866,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XM_011522855.3:c.1693-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521157.1:n.1693-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546786"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1866,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1866,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XM_011522857.3:c.1693-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521159.1:n.1693-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546787"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1866,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1866,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XM_011522858.3:c.1693-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521160.1:n.1693-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546788"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1818,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1818,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XM_017022918.2:c.1645-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878407.1:n.1645-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573761"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2181,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2181,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XM_017022919.1:c.1432-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878408.1:n.1432-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573762"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1246,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1246,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XM_017022920.2:c.937-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878409.1:n.937-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573763"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1198,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1198,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XM_017022921.2:c.889-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878410.1:n.889-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573764"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1198,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1198,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XM_017022922.2:c.889-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878411.1:n.889-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573765"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1866,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1866,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XR_001751829.2:n.1867-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598629"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1866,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1866,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XR_001751830.2:n.1867-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598630"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1818,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1818,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XR_001751831.2:n.1819-2A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598631"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4419,
          "referenceAllele": "A",
          "start": 4418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "XR_001751832.1:n.4419A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598632"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1777,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1777,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030539",
      "geneNCBI_id": 123872,
      "geneSymbol": "DNAAF1",
      "hgvs": [
        "NM_178452.6:c.1645-2A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_848547.4:n.1645-2A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672860",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378553.10:c.1645-2A>C"
          },
          "RefSeq": {
            "hgvs": "NM_178452.6:c.1645-2A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367815.5:n.1645-2A>C"
          },
          "RefSeq": {
            "hgvs": "NP_848547.4:n.1645-2A>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}