{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1706653918",
  "communityStandardTitle": [
    "NM_001082971.2(DDC):c.49A= (p.Met17=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=700133[alleleid]",
        "alleleId": 700133,
        "preferredName": "NM_001082971.2(DDC):c.49= (p.Met17=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/774776",
        "RCV": [
          "RCV000954821"
        ],
        "variationId": 774776
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/6264",
        "rs": 6264
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 50544037,
          "referenceAllele": "T",
          "start": 50544036
        }
      ],
      "hgvs": [
        "NC_000007.14:g.50544037T=",
        "CM000669.2:g.50544037T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 50611735,
          "referenceAllele": "T",
          "start": 50611734
        }
      ],
      "hgvs": [
        "NC_000007.13:g.50611735T=",
        "CM000669.1:g.50611735T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 50579229,
          "referenceAllele": "T",
          "start": 50579228
        }
      ],
      "hgvs": [
        "NC_000007.12:g.50579229T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 198,
          "referenceAllele": "A",
          "start": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "ENST00000444124.7:c.49A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403644.2:p.Met17="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755982",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000444124.7:c.49A="
          },
          "RefSeq": {
            "hgvs": "NM_001082971.2:c.49A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000403644.2:p.Met17="
          },
          "RefSeq": {
            "hgvs": "NP_001076440.2:p.Met17="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 118,
          "referenceAllele": "A",
          "start": 117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "ENST00000357936.9:c.49A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350616.5:p.Met17="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264278"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 112,
          "referenceAllele": "A",
          "start": 111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "ENST00000380984.4:c.49A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000370371.4:p.Met17="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273166"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 417,
          "referenceAllele": "A",
          "start": 416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "ENST00000420203.1:c.49A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408626.1:p.Met17="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286219"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 118,
          "referenceAllele": "A",
          "start": 117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "ENST00000426377.5:c.49A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395069.1:p.Met17="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289188"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 83,
          "referenceAllele": "A",
          "start": 82
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "ENST00000431062.5:c.49A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399184.1:p.Met17="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291443"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 250,
          "referenceAllele": "A",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "ENST00000444124.6:c.49A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403644.2:p.Met17="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297659"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 118,
          "referenceAllele": "A",
          "start": 117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "ENST00000444733.5:c.49A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393724.1:p.Met17="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297955"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 135,
          "referenceAllele": "A",
          "start": 134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "ENST00000615193.4:c.49A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484104.1:p.Met17="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402509"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 135,
          "referenceAllele": "A",
          "start": 134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "ENST00000617822.4:c.49A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478385.1:p.Met17="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403650"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 135,
          "referenceAllele": "A",
          "start": 134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "ENST00000622873.4:c.49A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479110.1:p.Met17="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405925"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 236,
          "referenceAllele": "A",
          "start": 235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "XM_005271745.3:c.49A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005271802.1:p.Met17="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 253,
          "referenceAllele": "A",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "XM_005271745.4:c.49A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005271802.1:p.Met17="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537163"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825484966",
      "coordinates": [
        {
          "allele": "A",
          "end": 198,
          "referenceAllele": "A",
          "start": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_001082971.2:c.49A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001076440.2:p.Met17="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663330",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000444124.7:c.49A="
          },
          "RefSeq": {
            "hgvs": "NM_001082971.2:c.49A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000403644.2:p.Met17="
          },
          "RefSeq": {
            "hgvs": "NP_001076440.2:p.Met17="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825217240",
      "coordinates": [
        {
          "allele": "A",
          "end": 135,
          "referenceAllele": "A",
          "start": 134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_000790.4:c.49A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000781.2:p.Met17="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674950"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826309085",
      "coordinates": [
        {
          "allele": "A",
          "end": 135,
          "referenceAllele": "A",
          "start": 134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_001242888.2:c.49A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001229817.2:p.Met17="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680146"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826309622",
      "coordinates": [
        {
          "allele": "A",
          "end": 135,
          "referenceAllele": "A",
          "start": 134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_001242890.2:c.49A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001229819.2:p.Met17="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680147"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826308475",
      "coordinates": [
        {
          "allele": "A",
          "end": 135,
          "referenceAllele": "A",
          "start": 134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_001242886.2:c.49A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001229815.2:p.Met17="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714409"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826308768",
      "coordinates": [
        {
          "allele": "A",
          "end": 135,
          "referenceAllele": "A",
          "start": 134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_001242887.2:c.49A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001229816.2:p.Met17="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714410"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826309348",
      "coordinates": [
        {
          "allele": "A",
          "end": 135,
          "referenceAllele": "A",
          "start": 134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002719",
      "geneNCBI_id": 1644,
      "geneSymbol": "DDC",
      "hgvs": [
        "NM_001242889.2:c.49A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001229818.2:p.Met17="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714411"
    }
  ],
  "type": "nucleotide"
}