{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2303884870",
  "communityStandardTitle": [
    "NM_005215.4(DCC):c.823C= (p.Arg275=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/754914260",
        "rs": 754914260
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 52923832,
          "referenceAllele": "C",
          "start": 52923831
        }
      ],
      "hgvs": [
        "NC_000018.10:g.52923832C=",
        "CM000680.2:g.52923832C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 50450202,
          "referenceAllele": "C",
          "start": 50450201
        }
      ],
      "hgvs": [
        "NC_000018.9:g.50450202C=",
        "CM000680.1:g.50450202C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 48704200,
          "referenceAllele": "C",
          "start": 48704199
        }
      ],
      "hgvs": [
        "NC_000018.8:g.48704200C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 588661,
          "referenceAllele": "C",
          "start": 588660
        }
      ],
      "hgvs": [
        "NG_013341.1:g.588661C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002793"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 588661,
          "referenceAllele": "C",
          "start": 588660
        }
      ],
      "hgvs": [
        "NG_013341.2:g.588661C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616206"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1414,
          "referenceAllele": "C",
          "start": 1413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002701",
      "geneNCBI_id": 1630,
      "geneSymbol": "DCC",
      "hgvs": [
        "ENST00000442544.7:c.823C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389140.2:p.Arg275="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755910",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000442544.7:c.823C="
          },
          "RefSeq": {
            "hgvs": "NM_005215.4:c.823C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389140.2:p.Arg275="
          },
          "RefSeq": {
            "hgvs": "NP_005206.2:p.Arg275="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 624,
          "referenceAllele": "C",
          "start": 623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002701",
      "geneNCBI_id": 1630,
      "geneSymbol": "DCC",
      "hgvs": [
        "ENST00000304775.12:c.624C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS255505"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 754,
          "referenceAllele": "C",
          "start": 753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002701",
      "geneNCBI_id": 1630,
      "geneSymbol": "DCC",
      "hgvs": [
        "ENST00000412726.5:c.754C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397322.2:p.Arg252="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282735"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1439,
          "referenceAllele": "C",
          "start": 1438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002701",
      "geneNCBI_id": 1630,
      "geneSymbol": "DCC",
      "hgvs": [
        "ENST00000442544.6:c.823C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389140.2:p.Arg275="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296921"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 34,
          "referenceAllele": "C",
          "start": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002701",
      "geneNCBI_id": 1630,
      "geneSymbol": "DCC",
      "hgvs": [
        "ENST00000579883.1:n.34C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS386051"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 49,
          "referenceAllele": "C",
          "start": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002701",
      "geneNCBI_id": 1630,
      "geneSymbol": "DCC",
      "hgvs": [
        "ENST00000584710.5:n.49C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS388352"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085449024",
      "coordinates": [
        {
          "allele": "C",
          "end": 1439,
          "referenceAllele": "C",
          "start": 1438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002701",
      "geneNCBI_id": 1630,
      "geneSymbol": "DCC",
      "hgvs": [
        "NM_005215.3:c.823C="
      ],
      "proteinEffect": {
        "hgvs": "NP_005206.2:p.Arg275="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030327"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1439,
          "referenceAllele": "C",
          "start": 1438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002701",
      "geneNCBI_id": 1630,
      "geneSymbol": "DCC",
      "hgvs": [
        "XM_011525843.1:c.823C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524145.1:p.Arg275="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092957"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1439,
          "referenceAllele": "C",
          "start": 1438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002701",
      "geneNCBI_id": 1630,
      "geneSymbol": "DCC",
      "hgvs": [
        "XM_011525845.1:c.823C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524147.1:p.Arg275="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092959"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1439,
          "referenceAllele": "C",
          "start": 1438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002701",
      "geneNCBI_id": 1630,
      "geneSymbol": "DCC",
      "hgvs": [
        "XM_011525846.1:c.823C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524148.1:p.Arg275="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092960"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1439,
          "referenceAllele": "C",
          "start": 1438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002701",
      "geneNCBI_id": 1630,
      "geneSymbol": "DCC",
      "hgvs": [
        "XM_017025568.1:c.823C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016881057.1:p.Arg275="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575874"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1439,
          "referenceAllele": "C",
          "start": 1438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002701",
      "geneNCBI_id": 1630,
      "geneSymbol": "DCC",
      "hgvs": [
        "XM_017025569.1:c.823C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016881058.1:p.Arg275="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575875"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085449024",
      "coordinates": [
        {
          "allele": "C",
          "end": 1414,
          "referenceAllele": "C",
          "start": 1413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002701",
      "geneNCBI_id": 1630,
      "geneSymbol": "DCC",
      "hgvs": [
        "NM_005215.4:c.823C="
      ],
      "proteinEffect": {
        "hgvs": "NP_005206.2:p.Arg275="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000442544.7:c.823C="
          },
          "RefSeq": {
            "hgvs": "NM_005215.4:c.823C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389140.2:p.Arg275="
          },
          "RefSeq": {
            "hgvs": "NP_005206.2:p.Arg275="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}