{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1722418",
  "communityStandardTitle": [
    "NM_004082.5(DCTN1):c.442C>T (p.Arg148Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=440734[alleleid]",
        "alleleId": 440734,
        "preferredName": "NM_004082.5(DCTN1):c.442C>T (p.Arg148Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/447238",
        "RCV": [
          "RCV000517517",
          "RCV000644478",
          "RCV001329176"
        ],
        "variationId": 447238
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-74600066-G-A",
        "id": "2-74600066-G-A",
        "variant": "2:74600066 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.74600066G>A?assembly=hg19",
        "id": "chr2:g.74600066G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.74372939G>A?assembly=hg38",
        "id": "chr2:g.74372939G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/148810193",
        "rs": 148810193
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-74600066-G-A?dataset=gnomad_r2_1",
        "id": "2-74600066-G-A",
        "variant": "2:74600066 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-74372939-G-A?dataset=gnomad_r3",
        "id": "2-74372939-G-A",
        "variant": "2:74372939 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-74372939-G-A?dataset=gnomad_r4",
        "id": "2-74372939-G-A",
        "variant": "2:74372939 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 74372939,
          "referenceAllele": "G",
          "start": 74372938
        }
      ],
      "hgvs": [
        "NC_000002.12:g.74372939G>A",
        "CM000664.2:g.74372939G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 74600066,
          "referenceAllele": "G",
          "start": 74600065
        }
      ],
      "hgvs": [
        "NC_000002.11:g.74600066G>A",
        "CM000664.1:g.74600066G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 74453574,
          "referenceAllele": "G",
          "start": 74453573
        }
      ],
      "hgvs": [
        "NC_000002.10:g.74453574G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 24149,
          "referenceAllele": "C",
          "start": 24148
        }
      ],
      "hgvs": [
        "NG_008735.2:g.24149C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001193"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 760,
          "referenceAllele": "C",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000361874.8:c.442C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354791.4:p.Arg148Trp",
        "hgvsWellDefined": "ENSP00000354791.4:p.Arg148Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749556"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 716,
          "referenceAllele": "C",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000628224.3:c.442C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487279.2:p.Arg148Trp",
        "hgvsWellDefined": "ENSP00000487279.2:p.Arg148Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762505",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000628224.3:c.442C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004082.5:c.442C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000487279.2:p.Arg148Trp"
          },
          "RefSeq": {
            "hgvs": "NP_004073.2:p.Arg148Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 482,
          "referenceAllele": "C",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000680606.1:c.391C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505612.1:p.Arg131Trp",
        "hgvsWellDefined": "ENSP00000505612.1:p.Arg131Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780221"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 760,
          "referenceAllele": "C",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000361874.7:c.442C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354791.3:p.Arg148Trp",
        "hgvsWellDefined": "ENSP00000354791.3:p.Arg148Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265691"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 739,
          "referenceAllele": "C",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000394003.7:c.421C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377571.3:p.Arg141Trp",
        "hgvsWellDefined": "ENSP00000377571.3:p.Arg141Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275927"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 654,
          "endIntronDirection": "-",
          "endIntronOffset": 1210,
          "referenceAllele": "C",
          "start": 654,
          "startIntronDirection": "-",
          "startIntronOffset": 1211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000409240.5:c.343-1211C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386406.1:n.343-1211C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 423,
          "referenceAllele": "C",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000409438.5:c.40C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387270.1:p.Arg14Trp",
        "hgvsWellDefined": "ENSP00000387270.1:p.Arg14Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281548"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 655,
          "endIntronDirection": "-",
          "endIntronOffset": 1210,
          "referenceAllele": "C",
          "start": 655,
          "startIntronDirection": "-",
          "startIntronOffset": 1211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000409567.7:c.394-1211C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386843.3:n.394-1211C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281662"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 481,
          "referenceAllele": "C",
          "start": 480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000409868.5:c.391C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387327.1:p.Arg131Trp",
        "hgvsWellDefined": "ENSP00000387327.1:p.Arg131Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281917"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 434,
          "endIntronDirection": "-",
          "endIntronOffset": 1210,
          "referenceAllele": "C",
          "start": 434,
          "startIntronDirection": "-",
          "startIntronOffset": 1211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000434055.5:c.343-1211C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416711.1:n.343-1211C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292854"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 468,
          "referenceAllele": "C",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000458655.5:c.463C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414315.1:p.Arg155Trp",
        "hgvsWellDefined": "ENSP00000414315.1:p.Arg155Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304510"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 277,
          "referenceAllele": "C",
          "start": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000462813.1:n.277C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306988"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 195,
          "referenceAllele": "C",
          "start": 194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000463583.5:n.195C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307588"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 383,
          "referenceAllele": "C",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000477966.1:n.383C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318665"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 760,
          "referenceAllele": "C",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000628224.2:c.391C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487279.1:p.Arg131Trp",
        "hgvsWellDefined": "ENSP00000487279.1:p.Arg131Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 423,
          "referenceAllele": "C",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "ENST00000633691.1:c.40C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487724.1:p.Arg14Trp",
        "hgvsWellDefined": "ENSP00000487724.1:p.Arg14Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407693"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 711,
          "endIntronDirection": "-",
          "endIntronOffset": 1210,
          "referenceAllele": "C",
          "start": 711,
          "startIntronDirection": "-",
          "startIntronOffset": 1211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_001135040.2:c.394-1211C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001128512.1:n.394-1211C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012335"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825787265",
      "coordinates": [
        {
          "allele": "T",
          "end": 423,
          "referenceAllele": "C",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_001135041.2:c.40C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001128513.1:p.Arg14Trp",
        "hgvsWellDefined": "NP_001128513.1:p.Arg14Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012336"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 654,
          "endIntronDirection": "-",
          "endIntronOffset": 1210,
          "referenceAllele": "C",
          "start": 654,
          "startIntronDirection": "-",
          "startIntronOffset": 1211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_001190836.1:c.343-1211C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177765.1:n.343-1211C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016239"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826167199",
      "coordinates": [
        {
          "allele": "T",
          "end": 739,
          "referenceAllele": "C",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_001190837.1:c.421C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177766.1:p.Arg141Trp",
        "hgvsWellDefined": "NP_001177766.1:p.Arg141Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016240"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829514715",
      "coordinates": [
        {
          "allele": "T",
          "end": 760,
          "referenceAllele": "C",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_004082.4:c.442C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004073.2:p.Arg148Trp",
        "hgvsWellDefined": "NP_004073.2:p.Arg148Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029272"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658668170",
      "coordinates": [
        {
          "allele": "T",
          "end": 423,
          "referenceAllele": "C",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_023019.3:c.40C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_075408.1:p.Arg14Trp",
        "hgvsWellDefined": "NP_075408.1:p.Arg14Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037543"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 654,
          "endIntronDirection": "-",
          "endIntronOffset": 1210,
          "referenceAllele": "C",
          "start": 654,
          "startIntronDirection": "-",
          "startIntronOffset": 1211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NR_033935.1:n.655-1211C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049255"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 667,
          "endIntronDirection": "-",
          "endIntronOffset": 1210,
          "referenceAllele": "C",
          "start": 667,
          "startIntronDirection": "-",
          "startIntronOffset": 1211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_001135040.3:c.394-1211C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001128512.1:n.394-1211C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712413"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825787265",
      "coordinates": [
        {
          "allele": "T",
          "end": 355,
          "referenceAllele": "C",
          "start": 354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_001135041.3:c.40C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001128513.1:p.Arg14Trp",
        "hgvsWellDefined": "NP_001128513.1:p.Arg14Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712414"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 433,
          "endIntronDirection": "-",
          "endIntronOffset": 1210,
          "referenceAllele": "C",
          "start": 433,
          "startIntronDirection": "-",
          "startIntronOffset": 1211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_001190836.2:c.343-1211C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177765.1:n.343-1211C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713687"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826167199",
      "coordinates": [
        {
          "allele": "T",
          "end": 695,
          "referenceAllele": "C",
          "start": 694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_001190837.2:c.421C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001177766.1:p.Arg141Trp",
        "hgvsWellDefined": "NP_001177766.1:p.Arg141Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713688"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828802299",
      "coordinates": [
        {
          "allele": "T",
          "end": 482,
          "referenceAllele": "C",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_001378991.1:c.391C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365920.1:p.Arg131Trp",
        "hgvsWellDefined": "NP_001365920.1:p.Arg131Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828803144",
      "coordinates": [
        {
          "allele": "T",
          "end": 464,
          "referenceAllele": "C",
          "start": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_001378992.1:c.373C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365921.1:p.Arg125Trp",
        "hgvsWellDefined": "NP_001365921.1:p.Arg125Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721880"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829514715",
      "coordinates": [
        {
          "allele": "T",
          "end": 716,
          "referenceAllele": "C",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_004082.5:c.442C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004073.2:p.Arg148Trp",
        "hgvsWellDefined": "NP_004073.2:p.Arg148Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727474",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000628224.3:c.442C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004082.5:c.442C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000487279.2:p.Arg148Trp"
          },
          "RefSeq": {
            "hgvs": "NP_004073.2:p.Arg148Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA658668170",
      "coordinates": [
        {
          "allele": "T",
          "end": 355,
          "referenceAllele": "C",
          "start": 354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NM_023019.4:c.40C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_075408.1:p.Arg14Trp",
        "hgvsWellDefined": "NP_075408.1:p.Arg14Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728616"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 433,
          "endIntronDirection": "-",
          "endIntronOffset": 1210,
          "referenceAllele": "C",
          "start": 433,
          "startIntronDirection": "-",
          "startIntronOffset": 1211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002711",
      "geneNCBI_id": 1639,
      "geneSymbol": "DCTN1",
      "hgvs": [
        "NR_033935.2:n.434-1211C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730307"
    }
  ],
  "type": "nucleotide"
}