{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1246003063",
  "communityStandardTitle": [
    "NC_000002.12:g.38754065G>T"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10197412",
        "rs": 10197412
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 38754065,
          "referenceAllele": "G",
          "start": 38754064
        }
      ],
      "hgvs": [
        "NC_000002.12:g.38754065G>T",
        "CM000664.2:g.38754065G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 38981207,
          "referenceAllele": "G",
          "start": 38981206
        }
      ],
      "hgvs": [
        "NC_000002.11:g.38981207G>T",
        "CM000664.1:g.38981207G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 38834711,
          "referenceAllele": "G",
          "start": 38834710
        }
      ],
      "hgvs": [
        "NC_000002.10:g.38834711G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 285,
          "endIntronDirection": "+",
          "endIntronOffset": 2247,
          "referenceAllele": "G",
          "start": 285,
          "startIntronDirection": "+",
          "startIntronOffset": 2246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020044",
      "geneNCBI_id": 79833,
      "geneSymbol": "GEMIN6",
      "hgvs": [
        "ENST00000409011.5:c.-281+2247G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387191.1:n.-281+2247G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281178"
    }
  ],
  "type": "nucleotide"
}