{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2579829332",
  "communityStandardTitle": [
    "NC_000011.10:g.5227163G>T"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/34883338",
        "rs": 34883338
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-5227163-G-T?dataset=gnomad_r4",
        "id": "11-5227163-G-T",
        "variant": "11:5227163 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 5227163,
          "referenceAllele": "G",
          "start": 5227162
        }
      ],
      "hgvs": [
        "NC_000011.10:g.5227163G>T",
        "CM000673.2:g.5227163G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 5248393,
          "referenceAllele": "G",
          "start": 5248392
        }
      ],
      "hgvs": [
        "NC_000011.9:g.5248393G>T",
        "CM000673.1:g.5248393G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 5204969,
          "referenceAllele": "G",
          "start": 5204968
        }
      ],
      "hgvs": [
        "NC_000011.8:g.5204969G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 70453,
          "referenceAllele": "C",
          "start": 70452
        }
      ],
      "hgvs": [
        "NG_000007.3:g.70453C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000435"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4909,
          "referenceAllele": "C",
          "start": 4908
        }
      ],
      "hgvs": [
        "NG_059281.1:g.4909C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617598"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 35,
          "referenceAllele": "C",
          "start": 34
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "ENST00000647020.1:c.-142C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494175.1:n.-142C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769194"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 212,
          "endIntronDirection": "-",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 212,
          "startIntronDirection": "-",
          "startIntronOffset": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "ENST00000380315.2:c.-18-124C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369671.2:n.-18-124C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272868"
    }
  ],
  "type": "nucleotide"
}