{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1706633568",
  "communityStandardTitle": [
    "NM_001082971.2(DDC):c.749C= (p.Ser250=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137853208",
        "rs": 137853208
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 50504025,
          "referenceAllele": "G",
          "start": 50504024
        }
      ],
      "hgvs": [
        "NC_000007.14:g.50504025G=",
        "CM000669.2:g.50504025G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 50571723,
          "referenceAllele": "G",
          "start": 50571722
        }
      ],
      "hgvs": [
        "NC_000007.13:g.50571723G=",
        "CM000669.1:g.50571723G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 50539217,
          "referenceAllele": "G",
          "start": 50539216
        }
      ],
      "hgvs": [
        "NC_000007.12:g.50539217G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 66432,
          "referenceAllele": "C",
          "start": 66431
        }
      ],
      "hgvs": [
        "NG_008742.1:g.66432C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001194"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 898,
          "referenceAllele": "C",
          "start": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "ENST00000444124.7:c.749C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403644.2:p.Ser250="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755982",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000444124.7:c.749C="
          },
          "RefSeq": {
            "hgvs": "NM_001082971.2:c.749C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000403644.2:p.Ser250="
          },
          "RefSeq": {
            "hgvs": "NP_001076440.2:p.Ser250="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 818,
          "referenceAllele": "C",
          "start": 817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "ENST00000357936.9:c.749C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350616.5:p.Ser250="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264278"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 812,
          "referenceAllele": "C",
          "start": 811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "ENST00000380984.4:c.749C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370371.4:p.Ser250="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273166"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 584,
          "referenceAllele": "C",
          "start": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "ENST00000426377.5:c.515C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395069.1:p.Ser172="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289188"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 391,
          "referenceAllele": "C",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "ENST00000430300.5:c.391C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS291077"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 504,
          "referenceAllele": "C",
          "start": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "ENST00000431062.5:c.470C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399184.1:p.Ser157="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291443"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 950,
          "referenceAllele": "C",
          "start": 949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "ENST00000444124.6:c.749C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403644.2:p.Ser250="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297659"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 704,
          "referenceAllele": "C",
          "start": 703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "ENST00000444733.5:c.635C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393724.1:p.Ser212="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297955"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18,
          "endIntronDirection": "+",
          "endIntronOffset": 38493,
          "referenceAllele": "C",
          "start": 18,
          "startIntronDirection": "+",
          "startIntronOffset": 38492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013286",
      "geneNCBI_id": 63979,
      "geneSymbol": "FIGNL1",
      "hgvs": [
        "ENST00000613602.3:c.-11+38493C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481751.1:n.-11+38493C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401821"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 556,
          "referenceAllele": "C",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "ENST00000615193.4:c.470C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484104.1:p.Ser157="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402509"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 691,
          "referenceAllele": "C",
          "start": 690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "ENST00000617822.4:c.605C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478385.1:p.Ser202="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403650"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 721,
          "referenceAllele": "C",
          "start": 720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "ENST00000622873.4:c.635C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479110.1:p.Ser212="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405925"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 835,
          "referenceAllele": "C",
          "start": 834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_000790.3:c.749C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000781.1:p.Ser250="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006819"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 950,
          "referenceAllele": "C",
          "start": 949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_001082971.1:c.749C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001076440.1:p.Ser250="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010376"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 721,
          "referenceAllele": "C",
          "start": 720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_001242886.1:c.635C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001229815.1:p.Ser212="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018335"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 691,
          "referenceAllele": "C",
          "start": 690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_001242887.1:c.605C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001229816.1:p.Ser202="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018336"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 601,
          "referenceAllele": "C",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_001242888.1:c.515C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001229817.1:p.Ser172="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018337"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 556,
          "referenceAllele": "C",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_001242889.1:c.470C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001229818.1:p.Ser157="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018338"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 835,
          "referenceAllele": "C",
          "start": 834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_001242890.1:c.749C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001229819.1:p.Ser250="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018339"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 822,
          "referenceAllele": "C",
          "start": 821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "XM_005271745.3:c.635C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005271802.1:p.Ser212="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 531,
          "referenceAllele": "C",
          "start": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "XM_011515161.1:c.398C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011513463.1:p.Ser133="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082381"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 839,
          "referenceAllele": "C",
          "start": 838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "XM_005271745.4:c.635C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005271802.1:p.Ser212="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537163"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 707,
          "referenceAllele": "C",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "XM_011515161.2:c.692C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011513463.2:p.Ser231="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543637"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 898,
          "referenceAllele": "C",
          "start": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_001082971.2:c.749C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001076440.2:p.Ser250="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663330",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000444124.7:c.749C="
          },
          "RefSeq": {
            "hgvs": "NM_001082971.2:c.749C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000403644.2:p.Ser250="
          },
          "RefSeq": {
            "hgvs": "NP_001076440.2:p.Ser250="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073461504",
      "coordinates": [
        {
          "allele": "C",
          "end": 835,
          "referenceAllele": "C",
          "start": 834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_000790.4:c.749C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000781.2:p.Ser250="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674950"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 601,
          "referenceAllele": "C",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_001242888.2:c.515C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001229817.2:p.Ser172="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680146"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 835,
          "referenceAllele": "C",
          "start": 834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_001242890.2:c.749C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001229819.2:p.Ser250="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680147"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 721,
          "referenceAllele": "C",
          "start": 720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_001242886.2:c.635C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001229815.2:p.Ser212="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714409"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 691,
          "referenceAllele": "C",
          "start": 690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_001242887.2:c.605C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001229816.2:p.Ser202="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714410"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 556,
          "referenceAllele": "C",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_001242889.2:c.470C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001229818.2:p.Ser157="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714411"
    }
  ],
  "type": "nucleotide"
}