{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2392215049",
  "communityStandardTitle": [
    "NC_000021.9:g.45546266G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1023159",
        "rs": 1023159
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 45546266,
          "referenceAllele": "G",
          "start": 45546265
        }
      ],
      "hgvs": [
        "NC_000021.9:g.45546266G=",
        "CM000683.2:g.45546266G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 46966180,
          "referenceAllele": "G",
          "start": 46966179
        }
      ],
      "hgvs": [
        "NC_000021.8:g.46966180G=",
        "CM000683.1:g.46966180G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "G",
          "end": 45790608,
          "referenceAllele": "G",
          "start": 45790607
        }
      ],
      "hgvs": [
        "NC_000021.7:g.45790608G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1206,
          "referenceAllele": "C",
          "start": 1205
        }
      ],
      "hgvs": [
        "NG_028278.1:g.1206C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004163"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 21878,
          "referenceAllele": "C",
          "start": 21877
        }
      ],
      "hgvs": [
        "NG_028278.2:g.21878C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616290"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 374,
          "endIntronDirection": "-",
          "endIntronOffset": 8257,
          "referenceAllele": "C",
          "start": 374,
          "startIntronDirection": "-",
          "startIntronOffset": 8258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010937",
      "geneNCBI_id": 6573,
      "geneSymbol": "SLC19A1",
      "hgvs": [
        "ENST00000650808.1:c.-49-8258C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498221.1:n.-49-8258C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771321"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 378,
          "endIntronDirection": "-",
          "endIntronOffset": 1640,
          "referenceAllele": "C",
          "start": 378,
          "startIntronDirection": "-",
          "startIntronOffset": 1641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010937",
      "geneNCBI_id": 6573,
      "geneSymbol": "SLC19A1",
      "hgvs": [
        "XM_011529697.1:c.-125-1641C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527999.1:n.-125-1641C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096763"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 385,
          "endIntronDirection": "-",
          "endIntronOffset": 8257,
          "referenceAllele": "C",
          "start": 385,
          "startIntronDirection": "-",
          "startIntronOffset": 8258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010937",
      "geneNCBI_id": 6573,
      "geneSymbol": "SLC19A1",
      "hgvs": [
        "XM_011529700.1:c.-49-8258C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528002.1:n.-49-8258C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096766"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 381,
          "endIntronDirection": "-",
          "endIntronOffset": 1628,
          "referenceAllele": "C",
          "start": 381,
          "startIntronDirection": "-",
          "startIntronOffset": 1629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010937",
      "geneNCBI_id": 6573,
      "geneSymbol": "SLC19A1",
      "hgvs": [
        "XM_011529705.1:c.-137-1629C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528007.1:n.-137-1629C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096771"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 383,
          "endIntronDirection": "-",
          "endIntronOffset": 1628,
          "referenceAllele": "C",
          "start": 383,
          "startIntronDirection": "-",
          "startIntronOffset": 1629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010937",
      "geneNCBI_id": 6573,
      "geneSymbol": "SLC19A1",
      "hgvs": [
        "XM_011529707.1:c.-137-1629C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528009.1:n.-137-1629C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096773"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 314,
          "endIntronDirection": "-",
          "endIntronOffset": 8257,
          "referenceAllele": "C",
          "start": 314,
          "startIntronDirection": "-",
          "startIntronOffset": 8258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010937",
      "geneNCBI_id": 6573,
      "geneSymbol": "SLC19A1",
      "hgvs": [
        "XM_011529709.1:c.-407-8258C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528011.1:n.-407-8258C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096775"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 378,
          "endIntronDirection": "-",
          "endIntronOffset": 14117,
          "referenceAllele": "C",
          "start": 378,
          "startIntronDirection": "-",
          "startIntronOffset": 14118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010937",
      "geneNCBI_id": 6573,
      "geneSymbol": "SLC19A1",
      "hgvs": [
        "XM_011529710.1:c.-165-14118C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528012.1:n.-165-14118C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096776"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 374,
          "endIntronDirection": "-",
          "endIntronOffset": 8257,
          "referenceAllele": "C",
          "start": 374,
          "startIntronDirection": "-",
          "startIntronOffset": 8258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010937",
      "geneNCBI_id": 6573,
      "geneSymbol": "SLC19A1",
      "hgvs": [
        "NM_001352511.1:c.-49-8258C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001339440.1:n.-49-8258C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520951"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 399,
          "endIntronDirection": "-",
          "endIntronOffset": 8257,
          "referenceAllele": "C",
          "start": 399,
          "startIntronDirection": "-",
          "startIntronOffset": 8258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010937",
      "geneNCBI_id": 6573,
      "geneSymbol": "SLC19A1",
      "hgvs": [
        "XM_011529700.2:c.-49-8258C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528002.1:n.-49-8258C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549625"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 314,
          "endIntronDirection": "-",
          "endIntronOffset": 8257,
          "referenceAllele": "C",
          "start": 314,
          "startIntronDirection": "-",
          "startIntronOffset": 8258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010937",
      "geneNCBI_id": 6573,
      "geneSymbol": "SLC19A1",
      "hgvs": [
        "XM_011529709.2:c.-407-8258C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011528011.1:n.-407-8258C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549630"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 284,
          "endIntronDirection": "-",
          "endIntronOffset": 8257,
          "referenceAllele": "C",
          "start": 284,
          "startIntronDirection": "-",
          "startIntronOffset": 8258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010937",
      "geneNCBI_id": 6573,
      "geneSymbol": "SLC19A1",
      "hgvs": [
        "NM_001352511.2:c.-49-8258C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001339440.1:n.-49-8258C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689290"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 284,
          "endIntronDirection": "-",
          "endIntronOffset": 8257,
          "referenceAllele": "C",
          "start": 284,
          "startIntronDirection": "-",
          "startIntronOffset": 8258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010937",
      "geneNCBI_id": 6573,
      "geneSymbol": "SLC19A1",
      "hgvs": [
        "NM_001352511.3:c.-49-8258C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001339440.1:n.-49-8258C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720070"
    }
  ],
  "type": "nucleotide"
}