{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1664280567",
  "communityStandardTitle": [
    "NM_006208.3(ENPP1):c.2320C= (p.Arg774=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28933977",
        "rs": 28933977
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 131884939,
          "referenceAllele": "C",
          "start": 131884938
        }
      ],
      "hgvs": [
        "NC_000006.12:g.131884939C=",
        "CM000668.2:g.131884939C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 132206079,
          "referenceAllele": "C",
          "start": 132206078
        }
      ],
      "hgvs": [
        "NC_000006.11:g.132206079C=",
        "CM000668.1:g.132206079C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "C",
          "end": 132247772,
          "referenceAllele": "C",
          "start": 132247771
        }
      ],
      "hgvs": [
        "NC_000006.10:g.132247772C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 81924,
          "referenceAllele": "C",
          "start": 81923
        }
      ],
      "hgvs": [
        "NG_008206.1:g.81924C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000948"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 751,
          "referenceAllele": "C",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003356",
      "geneNCBI_id": 5167,
      "geneSymbol": "ENPP1",
      "hgvs": [
        "ENST00000684674.1:n.751C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829625"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2336,
          "referenceAllele": "C",
          "start": 2335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003356",
      "geneNCBI_id": 5167,
      "geneSymbol": "ENPP1",
      "hgvs": [
        "ENST00000647893.1:c.2320C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498074.1:p.Arg774="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769675",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647893.1:c.2320C="
          },
          "RefSeq": {
            "hgvs": "NM_006208.3:c.2320C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498074.1:p.Arg774="
          },
          "RefSeq": {
            "hgvs": "NP_006199.2:p.Arg774="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2340,
          "referenceAllele": "C",
          "start": 2339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003356",
      "geneNCBI_id": 5167,
      "geneSymbol": "ENPP1",
      "hgvs": [
        "ENST00000360971.6:c.2320C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354238.2:p.Arg774="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265304"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2296,
          "referenceAllele": "C",
          "start": 2295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003356",
      "geneNCBI_id": 5167,
      "geneSymbol": "ENPP1",
      "hgvs": [
        "ENST00000513998.5:c.*1157C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422424.1:n.*1157C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343594"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072134297",
      "coordinates": [
        {
          "allele": "C",
          "end": 2340,
          "referenceAllele": "C",
          "start": 2339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003356",
      "geneNCBI_id": 5167,
      "geneSymbol": "ENPP1",
      "hgvs": [
        "NM_006208.2:c.2320C="
      ],
      "proteinEffect": {
        "hgvs": "NP_006199.2:p.Arg774="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031233"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1269,
          "referenceAllele": "C",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003356",
      "geneNCBI_id": 5167,
      "geneSymbol": "ENPP1",
      "hgvs": [
        "XM_011535896.1:c.1210C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011534198.1:p.Arg404="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102898"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072134297",
      "coordinates": [
        {
          "allele": "C",
          "end": 2336,
          "referenceAllele": "C",
          "start": 2335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003356",
      "geneNCBI_id": 5167,
      "geneSymbol": "ENPP1",
      "hgvs": [
        "NM_006208.3:c.2320C="
      ],
      "proteinEffect": {
        "hgvs": "NP_006199.2:p.Arg774="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525379",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647893.1:c.2320C="
          },
          "RefSeq": {
            "hgvs": "NM_006208.3:c.2320C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498074.1:p.Arg774="
          },
          "RefSeq": {
            "hgvs": "NP_006199.2:p.Arg774="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}