{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1608615537",
  "communityStandardTitle": [
    "NM_004415.4(DSP):c.8476C= (p.Arg2826=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/139969658",
        "rs": 139969658
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 7585738,
          "referenceAllele": "C",
          "start": 7585737
        }
      ],
      "hgvs": [
        "NC_000006.12:g.7585738C=",
        "CM000668.2:g.7585738C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 7585971,
          "referenceAllele": "C",
          "start": 7585970
        }
      ],
      "hgvs": [
        "NC_000006.11:g.7585971C=",
        "CM000668.1:g.7585971C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 7530970,
          "referenceAllele": "C",
          "start": 7530969
        }
      ],
      "hgvs": [
        "NC_000006.10:g.7530970C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 49102,
          "referenceAllele": "C",
          "start": 49101
        }
      ],
      "hgvs": [
        "NG_008803.1:g.49102C=",
        "LRG_423:g.49102C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001222"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7725,
          "referenceAllele": "C",
          "start": 7724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "ENST00000710359.1:c.7147C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518230.1:p.Arg2383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914523"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8721,
          "referenceAllele": "C",
          "start": 8720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "ENST00000379802.8:c.8476C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369129.3:p.Arg2826="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752283",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379802.8:c.8476C="
          },
          "RefSeq": {
            "hgvs": "NM_004415.4:c.8476C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369129.3:p.Arg2826="
          },
          "RefSeq": {
            "hgvs": "NP_004406.2:p.Arg2826="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8817,
          "referenceAllele": "C",
          "start": 8816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "ENST00000379802.7:c.8476C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369129.3:p.Arg2826="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246640"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6978,
          "referenceAllele": "C",
          "start": 6977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "ENST00000418664.2:c.6679C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396591.2:p.Arg2227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247262"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825297165",
      "coordinates": [
        {
          "allele": "C",
          "end": 6958,
          "referenceAllele": "C",
          "start": 6957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_001008844.1:c.6679C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001008844.1:p.Arg2227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008061"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829546766",
      "coordinates": [
        {
          "allele": "C",
          "end": 8755,
          "referenceAllele": "C",
          "start": 8754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_004415.2:c.8476C=",
        "LRG_423t1:c.8476C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004406.2:p.Arg2826="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029576"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7488,
          "referenceAllele": "C",
          "start": 7487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "XM_011514323.1:c.7147C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011512625.1:p.Arg2383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081548"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825297165",
      "coordinates": [
        {
          "allele": "C",
          "end": 7020,
          "referenceAllele": "C",
          "start": 7019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_001008844.2:c.6679C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001008844.1:p.Arg2227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510980"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827029990",
      "coordinates": [
        {
          "allele": "C",
          "end": 7488,
          "referenceAllele": "C",
          "start": 7487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_001319034.1:c.7147C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001305963.1:p.Arg2383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513176"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829546766",
      "coordinates": [
        {
          "allele": "C",
          "end": 8817,
          "referenceAllele": "C",
          "start": 8816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_004415.3:c.8476C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004406.2:p.Arg2826="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525209"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829546766",
      "coordinates": [
        {
          "allele": "C",
          "end": 8721,
          "referenceAllele": "C",
          "start": 8720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_004415.4:c.8476C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004406.2:p.Arg2826="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666469",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379802.8:c.8476C="
          },
          "RefSeq": {
            "hgvs": "NM_004415.4:c.8476C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369129.3:p.Arg2826="
          },
          "RefSeq": {
            "hgvs": "NP_004406.2:p.Arg2826="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825297165",
      "coordinates": [
        {
          "allele": "C",
          "end": 6924,
          "referenceAllele": "C",
          "start": 6923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_001008844.3:c.6679C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001008844.1:p.Arg2227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675337"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827029990",
      "coordinates": [
        {
          "allele": "C",
          "end": 7392,
          "referenceAllele": "C",
          "start": 7391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NM_001319034.2:c.7147C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001305963.1:p.Arg2383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684679"
    }
  ],
  "type": "nucleotide"
}