{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2034421932",
  "communityStandardTitle": [
    "NC_000012.12:g.47905119C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/11574010",
        "rs": 11574010
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 47905119,
          "referenceAllele": "C",
          "start": 47905118
        }
      ],
      "hgvs": [
        "NC_000012.12:g.47905119C=",
        "CM000674.2:g.47905119C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 48298902,
          "referenceAllele": "C",
          "start": 48298901
        }
      ],
      "hgvs": [
        "NC_000012.11:g.48298902C=",
        "CM000674.1:g.48298902C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 46585169,
          "referenceAllele": "C",
          "start": 46585168
        }
      ],
      "hgvs": [
        "NC_000012.10:g.46585169C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4913,
          "referenceAllele": "G",
          "start": 4912
        }
      ],
      "hgvs": [
        "NG_008731.1:g.4913G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001189"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 186,
          "endIntronDirection": "-",
          "endIntronOffset": 22344,
          "referenceAllele": "G",
          "start": 186,
          "startIntronDirection": "-",
          "startIntronOffset": 22345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "ENST00000395324.6:c.-83-22345G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378734.2:n.-83-22345G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276630"
    }
  ],
  "type": "nucleotide"
}