{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA12466985",
  "communityStandardTitle": [
    "NM_001082971.2(DDC):c.315+225C>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1235389[alleleid]",
        "alleleId": 1235389,
        "preferredName": "NM_001082971.2(DDC):c.315+225C>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1245436",
        "RCV": [
          "RCV001641759"
        ],
        "variationId": 1245436
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.50607388G>C?assembly=hg19",
        "id": "chr7:g.50607388G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.50539690G>C?assembly=hg38",
        "id": "chr7:g.50539690G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/998850",
        "rs": 998850
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-50607388-G-C?dataset=gnomad_r2_1",
        "id": "7-50607388-G-C",
        "variant": "7:50607388 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-50539690-G-C?dataset=gnomad_r3",
        "id": "7-50539690-G-C",
        "variant": "7:50539690 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-50539690-G-C?dataset=gnomad_r4",
        "id": "7-50539690-G-C",
        "variant": "7:50539690 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 50539690,
          "referenceAllele": "G",
          "start": 50539689
        }
      ],
      "hgvs": [
        "NC_000007.14:g.50539690G>C",
        "CM000669.2:g.50539690G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 50607388,
          "referenceAllele": "G",
          "start": 50607387
        }
      ],
      "hgvs": [
        "NC_000007.13:g.50607388G>C",
        "CM000669.1:g.50607388G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 50574882,
          "referenceAllele": "G",
          "start": 50574881
        }
      ],
      "hgvs": [
        "NC_000007.12:g.50574882G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 30767,
          "referenceAllele": "C",
          "start": 30766
        }
      ],
      "hgvs": [
        "NG_008742.1:g.30767C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001194"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 464,
          "endIntronDirection": "+",
          "endIntronOffset": 225,
          "referenceAllele": "C",
          "start": 464,
          "startIntronDirection": "+",
          "startIntronOffset": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "ENST00000444124.7:c.315+225C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403644.2:n.315+225C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755982",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000444124.7:c.315+225C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001082971.2:c.315+225C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000403644.2:n.315+225C>G"
          },
          "RefSeq": {
            "hgvs": "NP_001076440.2:n.315+225C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 384,
          "endIntronDirection": "+",
          "endIntronOffset": 225,
          "referenceAllele": "C",
          "start": 384,
          "startIntronDirection": "+",
          "startIntronOffset": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "ENST00000357936.9:c.315+225C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350616.5:n.315+225C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264278"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 378,
          "endIntronDirection": "+",
          "endIntronOffset": 225,
          "referenceAllele": "C",
          "start": 378,
          "startIntronDirection": "+",
          "startIntronOffset": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "ENST00000380984.4:c.315+225C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370371.4:n.315+225C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273166"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 270,
          "endIntronDirection": "+",
          "endIntronOffset": 4195,
          "referenceAllele": "C",
          "start": 270,
          "startIntronDirection": "+",
          "startIntronOffset": 4194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "ENST00000426377.5:c.201+4195C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395069.1:n.201+4195C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289188"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 212,
          "endIntronDirection": "+",
          "endIntronOffset": 225,
          "referenceAllele": "C",
          "start": 212,
          "startIntronDirection": "+",
          "startIntronOffset": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "ENST00000430300.5:c.212+225C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS291077"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 349,
          "endIntronDirection": "+",
          "endIntronOffset": 225,
          "referenceAllele": "C",
          "start": 349,
          "startIntronDirection": "+",
          "startIntronOffset": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "ENST00000431062.5:c.315+225C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399184.1:n.315+225C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291443"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 516,
          "endIntronDirection": "+",
          "endIntronOffset": 225,
          "referenceAllele": "C",
          "start": 516,
          "startIntronDirection": "+",
          "startIntronOffset": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "ENST00000444124.6:c.315+225C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403644.2:n.315+225C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297659"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 270,
          "endIntronDirection": "-",
          "endIntronOffset": 1710,
          "referenceAllele": "C",
          "start": 270,
          "startIntronDirection": "-",
          "startIntronOffset": 1711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "ENST00000444733.5:c.202-1711C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393724.1:n.202-1711C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297955"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 114,
          "endIntronDirection": "+",
          "endIntronOffset": 225,
          "referenceAllele": "C",
          "start": 114,
          "startIntronDirection": "+",
          "startIntronOffset": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "ENST00000489162.1:n.114+225C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327284"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 18,
          "endIntronDirection": "+",
          "endIntronOffset": 2828,
          "referenceAllele": "C",
          "start": 18,
          "startIntronDirection": "+",
          "startIntronOffset": 2827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013286",
      "geneNCBI_id": 63979,
      "geneSymbol": "FIGNL1",
      "hgvs": [
        "ENST00000613602.3:c.-11+2828C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481751.1:n.-11+2828C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401821"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 401,
          "endIntronDirection": "+",
          "endIntronOffset": 225,
          "referenceAllele": "C",
          "start": 401,
          "startIntronDirection": "+",
          "startIntronOffset": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "ENST00000615193.4:c.315+225C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484104.1:n.315+225C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402509"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 401,
          "endIntronDirection": "+",
          "endIntronOffset": 225,
          "referenceAllele": "C",
          "start": 401,
          "startIntronDirection": "+",
          "startIntronOffset": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "ENST00000617822.4:c.315+225C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478385.1:n.315+225C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403650"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 287,
          "endIntronDirection": "-",
          "endIntronOffset": 1710,
          "referenceAllele": "C",
          "start": 287,
          "startIntronDirection": "-",
          "startIntronOffset": 1711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "ENST00000622873.4:c.202-1711C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479110.1:n.202-1711C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405925"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 401,
          "endIntronDirection": "+",
          "endIntronOffset": 225,
          "referenceAllele": "C",
          "start": 401,
          "startIntronDirection": "+",
          "startIntronOffset": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_000790.3:c.315+225C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000781.1:n.315+225C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006819"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 516,
          "endIntronDirection": "+",
          "endIntronOffset": 225,
          "referenceAllele": "C",
          "start": 516,
          "startIntronDirection": "+",
          "startIntronOffset": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_001082971.1:c.315+225C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001076440.1:n.315+225C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010376"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 287,
          "endIntronDirection": "-",
          "endIntronOffset": 1710,
          "referenceAllele": "C",
          "start": 287,
          "startIntronDirection": "-",
          "startIntronOffset": 1711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_001242886.1:c.202-1711C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229815.1:n.202-1711C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018335"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 401,
          "endIntronDirection": "+",
          "endIntronOffset": 225,
          "referenceAllele": "C",
          "start": 401,
          "startIntronDirection": "+",
          "startIntronOffset": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_001242887.1:c.315+225C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229816.1:n.315+225C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018336"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 287,
          "endIntronDirection": "+",
          "endIntronOffset": 4195,
          "referenceAllele": "C",
          "start": 287,
          "startIntronDirection": "+",
          "startIntronOffset": 4194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_001242888.1:c.201+4195C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229817.1:n.201+4195C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018337"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 401,
          "endIntronDirection": "+",
          "endIntronOffset": 225,
          "referenceAllele": "C",
          "start": 401,
          "startIntronDirection": "+",
          "startIntronOffset": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_001242889.1:c.315+225C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229818.1:n.315+225C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018338"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 401,
          "endIntronDirection": "+",
          "endIntronOffset": 225,
          "referenceAllele": "C",
          "start": 401,
          "startIntronDirection": "+",
          "startIntronOffset": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_001242890.1:c.315+225C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229819.1:n.315+225C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018339"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 178,
          "endIntronDirection": "-",
          "endIntronOffset": 140,
          "referenceAllele": "G",
          "start": 178,
          "startIntronDirection": "-",
          "startIntronOffset": 141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN040171",
      "geneNCBI_id": 100129427,
      "geneSymbol": "DDC-AS1",
      "hgvs": [
        "NR_033845.1:n.179-141G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS049168"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 388,
          "endIntronDirection": "-",
          "endIntronOffset": 1710,
          "referenceAllele": "C",
          "start": 388,
          "startIntronDirection": "-",
          "startIntronOffset": 1711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "XM_005271745.3:c.202-1711C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271802.1:n.202-1711C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 405,
          "endIntronDirection": "-",
          "endIntronOffset": 1710,
          "referenceAllele": "C",
          "start": 405,
          "startIntronDirection": "-",
          "startIntronOffset": 1711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "XM_005271745.4:c.202-1711C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005271802.1:n.202-1711C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537163"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 464,
          "endIntronDirection": "+",
          "endIntronOffset": 225,
          "referenceAllele": "C",
          "start": 464,
          "startIntronDirection": "+",
          "startIntronOffset": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_001082971.2:c.315+225C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001076440.2:n.315+225C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663330",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000444124.7:c.315+225C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001082971.2:c.315+225C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000403644.2:n.315+225C>G"
          },
          "RefSeq": {
            "hgvs": "NP_001076440.2:n.315+225C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 401,
          "endIntronDirection": "+",
          "endIntronOffset": 225,
          "referenceAllele": "C",
          "start": 401,
          "startIntronDirection": "+",
          "startIntronOffset": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_000790.4:c.315+225C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000781.2:n.315+225C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674950"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 287,
          "endIntronDirection": "+",
          "endIntronOffset": 4195,
          "referenceAllele": "C",
          "start": 287,
          "startIntronDirection": "+",
          "startIntronOffset": 4194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_001242888.2:c.201+4195C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229817.2:n.201+4195C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680146"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 401,
          "endIntronDirection": "+",
          "endIntronOffset": 225,
          "referenceAllele": "C",
          "start": 401,
          "startIntronDirection": "+",
          "startIntronOffset": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_001242890.2:c.315+225C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229819.2:n.315+225C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680147"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 287,
          "endIntronDirection": "-",
          "endIntronOffset": 1710,
          "referenceAllele": "C",
          "start": 287,
          "startIntronDirection": "-",
          "startIntronOffset": 1711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_001242886.2:c.202-1711C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229815.2:n.202-1711C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714409"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 401,
          "endIntronDirection": "+",
          "endIntronOffset": 225,
          "referenceAllele": "C",
          "start": 401,
          "startIntronDirection": "+",
          "startIntronOffset": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_001242887.2:c.315+225C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229816.2:n.315+225C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714410"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 401,
          "endIntronDirection": "+",
          "endIntronOffset": 225,
          "referenceAllele": "C",
          "start": 401,
          "startIntronDirection": "+",
          "startIntronOffset": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_001242889.2:c.315+225C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229818.2:n.315+225C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714411"
    }
  ],
  "type": "nucleotide"
}