{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA171980",
  "communityStandardTitle": [
    "NM_001195553.2(DCX):c.532C>T (p.Arg178Cys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=487813",
        "active": true,
        "id": "COSM487813"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1138044",
        "active": true,
        "id": "COSM1138044"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=169887[alleleid]",
        "alleleId": 169887,
        "preferredName": "NM_001195553.2(DCX):c.532C>T (p.Arg178Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/158472",
        "RCV": [
          "RCV000145854",
          "RCV003320575"
        ],
        "variationId": 158472
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.110644391G>A?assembly=hg19",
        "id": "chrX:g.110644391G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.111401163G>A?assembly=hg38",
        "id": "chrX:g.111401163G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587783558",
        "rs": 587783558
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 111401163,
          "referenceAllele": "G",
          "start": 111401162
        }
      ],
      "hgvs": [
        "NC_000023.11:g.111401163G>A",
        "CM000685.2:g.111401163G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 110644391,
          "referenceAllele": "G",
          "start": 110644390
        }
      ],
      "hgvs": [
        "NC_000023.10:g.110644391G>A",
        "CM000685.1:g.110644391G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 110531047,
          "referenceAllele": "G",
          "start": 110531046
        }
      ],
      "hgvs": [
        "NC_000023.9:g.110531047G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16016,
          "referenceAllele": "C",
          "start": 16015
        }
      ],
      "hgvs": [
        "NG_011750.1:g.16016C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001948"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 632,
          "referenceAllele": "C",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002714",
      "geneNCBI_id": 1641,
      "geneSymbol": "DCX",
      "hgvs": [
        "ENST00000356220.8:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348553.4:p.Arg178Cys",
        "hgvsWellDefined": "ENSP00000348553.4:p.Arg178Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748766"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 947,
          "referenceAllele": "C",
          "start": 946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002714",
      "geneNCBI_id": 1641,
      "geneSymbol": "DCX",
      "hgvs": [
        "ENST00000358070.10:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350776.5:p.Arg178Cys",
        "hgvsWellDefined": "ENSP00000350776.5:p.Arg178Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 554,
          "referenceAllele": "C",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002714",
      "geneNCBI_id": 1641,
      "geneSymbol": "DCX",
      "hgvs": [
        "ENST00000371993.7:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361061.3:p.Arg178Cys",
        "hgvsWellDefined": "ENSP00000361061.3:p.Arg178Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750909"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 711,
          "referenceAllele": "C",
          "start": 710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002714",
      "geneNCBI_id": 1641,
      "geneSymbol": "DCX",
      "hgvs": [
        "ENST00000468911.2:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418811.2:p.Arg178Cys",
        "hgvsWellDefined": "ENSP00000418811.2:p.Arg178Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756952"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 846,
          "referenceAllele": "C",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002714",
      "geneNCBI_id": 1641,
      "geneSymbol": "DCX",
      "hgvs": [
        "ENST00000488120.2:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419861.1:p.Arg178Cys",
        "hgvsWellDefined": "ENSP00000419861.1:p.Arg178Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757580"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 750,
          "referenceAllele": "C",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002714",
      "geneNCBI_id": 1641,
      "geneSymbol": "DCX",
      "hgvs": [
        "ENST00000496551.2:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490448.1:p.Arg178Cys",
        "hgvsWellDefined": "ENSP00000490448.1:p.Arg178Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757835"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 689,
          "referenceAllele": "C",
          "start": 688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002714",
      "geneNCBI_id": 1641,
      "geneSymbol": "DCX",
      "hgvs": [
        "ENST00000635795.1:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489635.1:p.Arg178Cys",
        "hgvsWellDefined": "ENSP00000489635.1:p.Arg178Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762645"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 609,
          "referenceAllele": "C",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002714",
      "geneNCBI_id": 1641,
      "geneSymbol": "DCX",
      "hgvs": [
        "ENST00000636035.2:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490614.1:p.Arg178Cys",
        "hgvsWellDefined": "ENSP00000490614.1:p.Arg178Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762826",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000636035.2:c.532C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001195553.2:c.532C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000490614.1:p.Arg178Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001182482.1:p.Arg178Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 716,
          "referenceAllele": "C",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002714",
      "geneNCBI_id": 1641,
      "geneSymbol": "DCX",
      "hgvs": [
        "ENST00000636381.2:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490068.2:p.Arg178Cys",
        "hgvsWellDefined": "ENSP00000490068.2:p.Arg178Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763074"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 777,
          "referenceAllele": "C",
          "start": 776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002714",
      "geneNCBI_id": 1641,
      "geneSymbol": "DCX",
      "hgvs": [
        "ENST00000637453.1:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490357.1:p.Arg178Cys",
        "hgvsWellDefined": "ENSP00000490357.1:p.Arg178Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763871"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 598,
          "referenceAllele": "C",
          "start": 597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002714",
      "geneNCBI_id": 1641,
      "geneSymbol": "DCX",
      "hgvs": [
        "ENST00000637570.1:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490878.1:p.Arg178Cys",
        "hgvsWellDefined": "ENSP00000490878.1:p.Arg178Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763954"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 554,
          "referenceAllele": "C",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002714",
      "geneNCBI_id": 1641,
      "geneSymbol": "DCX",
      "hgvs": [
        "ENST00000680476.1:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505501.1:p.Arg178Cys",
        "hgvsWellDefined": "ENSP00000505501.1:p.Arg178Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780093"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 947,
          "referenceAllele": "C",
          "start": 946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002714",
      "geneNCBI_id": 1641,
      "geneSymbol": "DCX",
      "hgvs": [
        "ENST00000338081.7:c.775C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000337697.3:p.Arg259Cys",
        "hgvsWellDefined": "ENSP00000337697.3:p.Arg259Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260580"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 632,
          "referenceAllele": "C",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002714",
      "geneNCBI_id": 1641,
      "geneSymbol": "DCX",
      "hgvs": [
        "ENST00000356220.7:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348553.3:p.Arg178Cys",
        "hgvsWellDefined": "ENSP00000348553.3:p.Arg178Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263691"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 750,
          "referenceAllele": "C",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002714",
      "geneNCBI_id": 1641,
      "geneSymbol": "DCX",
      "hgvs": [
        "ENST00000358070.8:c.750C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS264323"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 776,
          "referenceAllele": "C",
          "start": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002714",
      "geneNCBI_id": 1641,
      "geneSymbol": "DCX",
      "hgvs": [
        "ENST00000371993.6:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361061.2:p.Arg178Cys",
        "hgvsWellDefined": "ENSP00000361061.2:p.Arg178Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268860"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 792,
          "referenceAllele": "C",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002714",
      "geneNCBI_id": 1641,
      "geneSymbol": "DCX",
      "hgvs": [
        "ENST00000488120.1:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419861.1:p.Arg178Cys",
        "hgvsWellDefined": "ENSP00000419861.1:p.Arg178Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS326505"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 772,
          "referenceAllele": "C",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002714",
      "geneNCBI_id": 1641,
      "geneSymbol": "DCX",
      "hgvs": [
        "ENST00000496551.1:n.772C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332986"
    },
    {
      "@id": "http://reg.genome.network/allele/PA109529",
      "coordinates": [
        {
          "allele": "T",
          "end": 947,
          "referenceAllele": "C",
          "start": 946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002714",
      "geneNCBI_id": 1641,
      "geneSymbol": "DCX",
      "hgvs": [
        "NM_000555.3:c.775C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000546.2:p.Arg259Cys",
        "hgvsWellDefined": "NP_000546.2:p.Arg259Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826204963",
      "coordinates": [
        {
          "allele": "T",
          "end": 649,
          "referenceAllele": "C",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002714",
      "geneNCBI_id": 1641,
      "geneSymbol": "DCX",
      "hgvs": [
        "NM_001195553.1:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182482.1:p.Arg178Cys",
        "hgvsWellDefined": "NP_001182482.1:p.Arg178Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016628"
    },
    {
      "@id": "http://reg.genome.network/allele/PA171981",
      "coordinates": [
        {
          "allele": "T",
          "end": 776,
          "referenceAllele": "C",
          "start": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002714",
      "geneNCBI_id": 1641,
      "geneSymbol": "DCX",
      "hgvs": [
        "NM_178151.2:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_835364.1:p.Arg178Cys",
        "hgvsWellDefined": "NP_835364.1:p.Arg178Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043459"
    },
    {
      "@id": "http://reg.genome.network/allele/PA171982",
      "coordinates": [
        {
          "allele": "T",
          "end": 649,
          "referenceAllele": "C",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002714",
      "geneNCBI_id": 1641,
      "geneSymbol": "DCX",
      "hgvs": [
        "NM_178152.2:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_835365.1:p.Arg178Cys",
        "hgvsWellDefined": "NP_835365.1:p.Arg178Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043460"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830374226",
      "coordinates": [
        {
          "allele": "T",
          "end": 649,
          "referenceAllele": "C",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002714",
      "geneNCBI_id": 1641,
      "geneSymbol": "DCX",
      "hgvs": [
        "NM_178153.2:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_835366.1:p.Arg178Cys",
        "hgvsWellDefined": "NP_835366.1:p.Arg178Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043461"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 621,
          "referenceAllele": "C",
          "start": 620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002714",
      "geneNCBI_id": 1641,
      "geneSymbol": "DCX",
      "hgvs": [
        "XM_011530878.1:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529180.1:p.Arg178Cys",
        "hgvsWellDefined": "XP_011529180.1:p.Arg178Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097919"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 621,
          "referenceAllele": "C",
          "start": 620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002714",
      "geneNCBI_id": 1641,
      "geneSymbol": "DCX",
      "hgvs": [
        "XM_011530879.1:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529181.1:p.Arg178Cys",
        "hgvsWellDefined": "XP_011529181.1:p.Arg178Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097920"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 621,
          "referenceAllele": "C",
          "start": 620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002714",
      "geneNCBI_id": 1641,
      "geneSymbol": "DCX",
      "hgvs": [
        "XM_011530880.1:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529182.1:p.Arg178Cys",
        "hgvsWellDefined": "XP_011529182.1:p.Arg178Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097921"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 622,
          "referenceAllele": "C",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002714",
      "geneNCBI_id": 1641,
      "geneSymbol": "DCX",
      "hgvs": [
        "XM_011530878.3:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529180.1:p.Arg178Cys",
        "hgvsWellDefined": "XP_011529180.1:p.Arg178Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550145"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 622,
          "referenceAllele": "C",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002714",
      "geneNCBI_id": 1641,
      "geneSymbol": "DCX",
      "hgvs": [
        "XM_011530879.3:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529181.1:p.Arg178Cys",
        "hgvsWellDefined": "XP_011529181.1:p.Arg178Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550146"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 622,
          "referenceAllele": "C",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002714",
      "geneNCBI_id": 1641,
      "geneSymbol": "DCX",
      "hgvs": [
        "XM_011530880.3:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529182.1:p.Arg178Cys",
        "hgvsWellDefined": "XP_011529182.1:p.Arg178Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550147"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 703,
          "referenceAllele": "C",
          "start": 702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002714",
      "geneNCBI_id": 1641,
      "geneSymbol": "DCX",
      "hgvs": [
        "XM_017029312.2:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884801.1:p.Arg178Cys",
        "hgvsWellDefined": "XP_016884801.1:p.Arg178Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578878"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826204963",
      "coordinates": [
        {
          "allele": "T",
          "end": 609,
          "referenceAllele": "C",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002714",
      "geneNCBI_id": 1641,
      "geneSymbol": "DCX",
      "hgvs": [
        "NM_001195553.2:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001182482.1:p.Arg178Cys",
        "hgvsWellDefined": "NP_001182482.1:p.Arg178Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679322",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000636035.2:c.532C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001195553.2:c.532C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000490614.1:p.Arg178Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001182482.1:p.Arg178Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828322575",
      "coordinates": [
        {
          "allele": "T",
          "end": 682,
          "referenceAllele": "C",
          "start": 681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002714",
      "geneNCBI_id": 1641,
      "geneSymbol": "DCX",
      "hgvs": [
        "NM_001369370.1:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356299.1:p.Arg178Cys",
        "hgvsWellDefined": "NP_001356299.1:p.Arg178Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691595"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828322773",
      "coordinates": [
        {
          "allele": "T",
          "end": 682,
          "referenceAllele": "C",
          "start": 681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002714",
      "geneNCBI_id": 1641,
      "geneSymbol": "DCX",
      "hgvs": [
        "NM_001369371.1:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356300.1:p.Arg178Cys",
        "hgvsWellDefined": "NP_001356300.1:p.Arg178Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691596"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828322969",
      "coordinates": [
        {
          "allele": "T",
          "end": 609,
          "referenceAllele": "C",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002714",
      "geneNCBI_id": 1641,
      "geneSymbol": "DCX",
      "hgvs": [
        "NM_001369372.1:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356301.1:p.Arg178Cys",
        "hgvsWellDefined": "NP_001356301.1:p.Arg178Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691597"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828323166",
      "coordinates": [
        {
          "allele": "T",
          "end": 609,
          "referenceAllele": "C",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002714",
      "geneNCBI_id": 1641,
      "geneSymbol": "DCX",
      "hgvs": [
        "NM_001369373.1:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356302.1:p.Arg178Cys",
        "hgvsWellDefined": "NP_001356302.1:p.Arg178Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691598"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828323350",
      "coordinates": [
        {
          "allele": "T",
          "end": 682,
          "referenceAllele": "C",
          "start": 681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002714",
      "geneNCBI_id": 1641,
      "geneSymbol": "DCX",
      "hgvs": [
        "NM_001369374.1:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356303.1:p.Arg178Cys",
        "hgvsWellDefined": "NP_001356303.1:p.Arg178Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691599"
    },
    {
      "@id": "http://reg.genome.network/allele/PA171982",
      "coordinates": [
        {
          "allele": "T",
          "end": 609,
          "referenceAllele": "C",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002714",
      "geneNCBI_id": 1641,
      "geneSymbol": "DCX",
      "hgvs": [
        "NM_178152.3:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_835365.1:p.Arg178Cys",
        "hgvsWellDefined": "NP_835365.1:p.Arg178Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700836"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830374226",
      "coordinates": [
        {
          "allele": "T",
          "end": 609,
          "referenceAllele": "C",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002714",
      "geneNCBI_id": 1641,
      "geneSymbol": "DCX",
      "hgvs": [
        "NM_178153.3:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_835366.1:p.Arg178Cys",
        "hgvsWellDefined": "NP_835366.1:p.Arg178Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700837"
    },
    {
      "@id": "http://reg.genome.network/allele/PA171981",
      "coordinates": [
        {
          "allele": "T",
          "end": 777,
          "referenceAllele": "C",
          "start": 776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002714",
      "geneNCBI_id": 1641,
      "geneSymbol": "DCX",
      "hgvs": [
        "NM_178151.3:c.532C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_835364.1:p.Arg178Cys",
        "hgvsWellDefined": "NP_835364.1:p.Arg178Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729669"
    }
  ],
  "type": "nucleotide"
}