{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2406582070",
  "communityStandardTitle": [
    "NC_000022.11:g.42132375G>T"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1080985",
        "rs": 1080985
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-42132375-G-T?dataset=gnomad_r4",
        "id": "22-42132375-G-T",
        "variant": "22:42132375 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 42132375,
          "referenceAllele": "G",
          "start": 42132374
        }
      ],
      "hgvs": [
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        "CM000684.2:g.42132375G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2617,
          "referenceAllele": "C",
          "start": 2616
        }
      ],
      "hgvs": [
        "NG_008376.3:g.2617C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001064"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3436,
          "referenceAllele": "C",
          "start": 3435
        }
      ],
      "hgvs": [
        "NG_008376.4:g.3436C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616101"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 304,
          "endIntronDirection": "-",
          "endIntronOffset": 538,
          "referenceAllele": "C",
          "start": 304,
          "startIntronDirection": "-",
          "startIntronOffset": 539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002625",
      "geneNCBI_id": 1565,
      "geneSymbol": "CYP2D6",
      "hgvs": [
        "XM_011529967.1:c.-1045-539C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011528269.1:n.-1045-539C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097026"
    }
  ],
  "type": "nucleotide"
}