{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1283225712",
  "communityStandardTitle": [
    "NC_000002.12:g.119755557G>C"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/13401620",
        "rs": 13401620
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 119755557,
          "referenceAllele": "G",
          "start": 119755556
        }
      ],
      "hgvs": [
        "NC_000002.12:g.119755557G>C",
        "CM000664.2:g.119755557G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 120513133,
          "referenceAllele": "G",
          "start": 120513132
        }
      ],
      "hgvs": [
        "NC_000002.11:g.120513133G>C",
        "CM000664.1:g.120513133G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 120229603,
          "referenceAllele": "G",
          "start": 120229602
        }
      ],
      "hgvs": [
        "NC_000002.10:g.120229603G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 582,
          "endIntronDirection": "+",
          "endIntronOffset": 4075,
          "referenceAllele": "C",
          "start": 582,
          "startIntronDirection": "+",
          "startIntronOffset": 4074
        }
      ],
      "hgvs": [
        "XM_011512306.1:c.582+4075C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510608.1:n.582+4075C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079562"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 597,
          "endIntronDirection": "+",
          "endIntronOffset": 4075,
          "referenceAllele": "C",
          "start": 597,
          "startIntronDirection": "+",
          "startIntronOffset": 4074
        }
      ],
      "hgvs": [
        "XR_001739667.2:n.597+4075C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589976"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 54,
          "endIntronDirection": "+",
          "endIntronOffset": 4890,
          "referenceAllele": "C",
          "start": 54,
          "startIntronDirection": "+",
          "startIntronOffset": 4889
        }
      ],
      "hgvs": [
        "XR_001739676.1:n.54+4890C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589983"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 597,
          "endIntronDirection": "+",
          "endIntronOffset": 4075,
          "referenceAllele": "C",
          "start": 597,
          "startIntronDirection": "+",
          "startIntronOffset": 4074
        }
      ],
      "hgvs": [
        "XR_001739677.2:n.597+4075C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589984"
    }
  ],
  "type": "nucleotide"
}