{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2062148235",
  "communityStandardTitle": [
    "NC_000012.12:g.108878275C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/4623951",
        "rs": 4623951
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 108878275,
          "referenceAllele": "C",
          "start": 108878274
        }
      ],
      "hgvs": [
        "NC_000012.12:g.108878275C=",
        "CM000674.2:g.108878275C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 109272051,
          "referenceAllele": "C",
          "start": 109272050
        }
      ],
      "hgvs": [
        "NC_000012.11:g.109272051C=",
        "CM000674.1:g.109272051C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 107796180,
          "referenceAllele": "C",
          "start": 107796179
        }
      ],
      "hgvs": [
        "NC_000012.10:g.107796180C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3195,
          "referenceAllele": "C",
          "start": 3194
        }
      ],
      "hgvs": [
        "NG_023236.1:g.3195C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003728"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 348,
          "endIntronDirection": "-",
          "endIntronOffset": 1287,
          "referenceAllele": "C",
          "start": 348,
          "startIntronDirection": "-",
          "startIntronOffset": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002671",
      "geneNCBI_id": 1610,
      "geneSymbol": "DAO",
      "hgvs": [
        "ENST00000548052.5:n.349-1288C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS366632"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 104,
          "endIntronDirection": "-",
          "endIntronOffset": 6722,
          "referenceAllele": "C",
          "start": 104,
          "startIntronDirection": "-",
          "startIntronOffset": 6723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002671",
      "geneNCBI_id": 1610,
      "geneSymbol": "DAO",
      "hgvs": [
        "ENST00000551281.5:c.-9-6723C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446853.1:n.-9-6723C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368571"
    }
  ],
  "type": "nucleotide"
}