{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2580608827",
  "communityStandardTitle": [
    "NM_033453.4(ITPA):c.124+21A>T"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/7270101",
        "rs": 7270101
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/20-3213247-A-T?dataset=gnomad_r4",
        "id": "20-3213247-A-T",
        "variant": "20:3213247 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 3213247,
          "referenceAllele": "A",
          "start": 3213246
        }
      ],
      "hgvs": [
        "NC_000020.11:g.3213247A>T",
        "CM000682.2:g.3213247A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 3193893,
          "referenceAllele": "A",
          "start": 3193892
        }
      ],
      "hgvs": [
        "NC_000020.10:g.3193893A>T",
        "CM000682.1:g.3193893A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 3141893,
          "referenceAllele": "A",
          "start": 3141892
        }
      ],
      "hgvs": [
        "NC_000020.9:g.3141893A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8838,
          "referenceAllele": "A",
          "start": 8837
        }
      ],
      "hgvs": [
        "NG_012093.1:g.8838A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9381,
          "referenceAllele": "A",
          "start": 9380
        }
      ],
      "hgvs": [
        "NG_012093.2:g.9381A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616170"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 178,
          "endIntronDirection": "+",
          "endIntronOffset": 21,
          "referenceAllele": "A",
          "start": 178,
          "startIntronDirection": "+",
          "startIntronOffset": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006176",
      "geneNCBI_id": 3704,
      "geneSymbol": "ITPA",
      "hgvs": [
        "ENST00000380113.8:c.124+21A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369456.3:n.124+21A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752337",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380113.8:c.124+21A>T"
          },
          "RefSeq": {
            "hgvs": "NM_033453.4:c.124+21A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369456.3:n.124+21A>T"
          },
          "RefSeq": {
            "hgvs": "NP_258412.1:n.124+21A>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 316,
          "endIntronDirection": "+",
          "endIntronOffset": 21,
          "referenceAllele": "A",
          "start": 316,
          "startIntronDirection": "+",
          "startIntronOffset": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006176",
      "geneNCBI_id": 3704,
      "geneSymbol": "ITPA",
      "hgvs": [
        "ENST00000380113.7:c.124+21A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369456.3:n.124+21A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272781"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 93,
          "endIntronDirection": "-",
          "endIntronOffset": 737,
          "referenceAllele": "A",
          "start": 93,
          "startIntronDirection": "-",
          "startIntronOffset": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006176",
      "geneNCBI_id": 3704,
      "geneSymbol": "ITPA",
      "hgvs": [
        "ENST00000399838.3:c.67-738A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382732.3:n.67-738A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278822"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 112,
          "endIntronDirection": "+",
          "endIntronOffset": 21,
          "referenceAllele": "A",
          "start": 112,
          "startIntronDirection": "+",
          "startIntronOffset": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006176",
      "geneNCBI_id": 3704,
      "geneSymbol": "ITPA",
      "hgvs": [
        "ENST00000455664.6:c.73+21A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413282.1:n.73+21A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303154"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 163,
          "endIntronDirection": "+",
          "endIntronOffset": 21,
          "referenceAllele": "A",
          "start": 163,
          "startIntronDirection": "+",
          "startIntronOffset": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006176",
      "geneNCBI_id": 3704,
      "geneSymbol": "ITPA",
      "hgvs": [
        "ENST00000460550.5:n.163+21A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305261"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 194,
          "endIntronDirection": "+",
          "endIntronOffset": 21,
          "referenceAllele": "A",
          "start": 194,
          "startIntronDirection": "+",
          "startIntronOffset": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006176",
      "geneNCBI_id": 3704,
      "geneSymbol": "ITPA",
      "hgvs": [
        "ENST00000460676.5:n.194+21A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305362"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 224,
          "endIntronDirection": "+",
          "endIntronOffset": 21,
          "referenceAllele": "A",
          "start": 224,
          "startIntronDirection": "+",
          "startIntronOffset": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006176",
      "geneNCBI_id": 3704,
      "geneSymbol": "ITPA",
      "hgvs": [
        "ENST00000483354.5:n.224+21A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322839"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 47,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "A",
          "start": 47,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006176",
      "geneNCBI_id": 3704,
      "geneSymbol": "ITPA",
      "hgvs": [
        "ENST00000490838.6:n.48-11A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328572"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 117,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "A",
          "start": 117,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006176",
      "geneNCBI_id": 3704,
      "geneSymbol": "ITPA",
      "hgvs": [
        "ENST00000609835.5:n.118-11A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS400288"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 258,
          "endIntronDirection": "-",
          "endIntronOffset": 737,
          "referenceAllele": "A",
          "start": 258,
          "startIntronDirection": "-",
          "startIntronOffset": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006176",
      "geneNCBI_id": 3704,
      "geneSymbol": "ITPA",
      "hgvs": [
        "NM_001267623.1:c.67-738A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001254552.1:n.67-738A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020159"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 316,
          "endIntronDirection": "+",
          "endIntronOffset": 21,
          "referenceAllele": "A",
          "start": 316,
          "startIntronDirection": "+",
          "startIntronOffset": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006176",
      "geneNCBI_id": 3704,
      "geneSymbol": "ITPA",
      "hgvs": [
        "NM_033453.3:c.124+21A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_258412.1:n.124+21A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039756"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 137,
          "endIntronDirection": "+",
          "endIntronOffset": 21,
          "referenceAllele": "A",
          "start": 137,
          "startIntronDirection": "+",
          "startIntronOffset": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006176",
      "geneNCBI_id": 3704,
      "geneSymbol": "ITPA",
      "hgvs": [
        "NM_181493.2:c.73+21A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_852470.1:n.73+21A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 224,
          "endIntronDirection": "+",
          "endIntronOffset": 21,
          "referenceAllele": "A",
          "start": 224,
          "startIntronDirection": "+",
          "startIntronOffset": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006176",
      "geneNCBI_id": 3704,
      "geneSymbol": "ITPA",
      "hgvs": [
        "NR_052000.1:n.224+21A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052366"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 48,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "A",
          "start": 48,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006176",
      "geneNCBI_id": 3704,
      "geneSymbol": "ITPA",
      "hgvs": [
        "NR_052001.1:n.49-11A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052367"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 316,
          "endIntronDirection": "+",
          "endIntronOffset": 21,
          "referenceAllele": "A",
          "start": 316,
          "startIntronDirection": "+",
          "startIntronOffset": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006176",
      "geneNCBI_id": 3704,
      "geneSymbol": "ITPA",
      "hgvs": [
        "NR_052002.1:n.316+21A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 612,
          "endIntronDirection": "+",
          "endIntronOffset": 21,
          "referenceAllele": "A",
          "start": 612,
          "startIntronDirection": "+",
          "startIntronOffset": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006176",
      "geneNCBI_id": 3704,
      "geneSymbol": "ITPA",
      "hgvs": [
        "XM_006723564.2:c.124+21A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723627.1:n.124+21A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075096"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 560,
          "endIntronDirection": "-",
          "endIntronOffset": 737,
          "referenceAllele": "A",
          "start": 560,
          "startIntronDirection": "-",
          "startIntronOffset": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006176",
      "geneNCBI_id": 3704,
      "geneSymbol": "ITPA",
      "hgvs": [
        "XM_006723565.2:c.67-738A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723628.1:n.67-738A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075097"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 611,
          "endIntronDirection": "+",
          "endIntronOffset": 21,
          "referenceAllele": "A",
          "start": 611,
          "startIntronDirection": "+",
          "startIntronOffset": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006176",
      "geneNCBI_id": 3704,
      "geneSymbol": "ITPA",
      "hgvs": [
        "XM_011529234.1:c.124+21A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527536.1:n.124+21A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096303"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 608,
          "endIntronDirection": "+",
          "endIntronOffset": 21,
          "referenceAllele": "A",
          "start": 608,
          "startIntronDirection": "+",
          "startIntronOffset": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006176",
      "geneNCBI_id": 3704,
      "geneSymbol": "ITPA",
      "hgvs": [
        "XM_011529235.1:c.124+21A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527537.1:n.124+21A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096304"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 258,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "A",
          "start": 258,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006176",
      "geneNCBI_id": 3704,
      "geneSymbol": "ITPA",
      "hgvs": [
        "NM_001324236.1:c.-274-11A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311165.1:n.-274-11A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515836"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 224,
          "endIntronDirection": "+",
          "endIntronOffset": 21,
          "referenceAllele": "A",
          "start": 224,
          "startIntronDirection": "+",
          "startIntronOffset": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006176",
      "geneNCBI_id": 3704,
      "geneSymbol": "ITPA",
      "hgvs": [
        "NM_001324237.1:c.-214+21A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311166.1:n.-214+21A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515837"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 166,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "A",
          "start": 166,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006176",
      "geneNCBI_id": 3704,
      "geneSymbol": "ITPA",
      "hgvs": [
        "NM_001324238.1:c.-274-11A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311167.1:n.-274-11A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515838"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 316,
          "endIntronDirection": "+",
          "endIntronOffset": 21,
          "referenceAllele": "A",
          "start": 316,
          "startIntronDirection": "+",
          "startIntronOffset": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006176",
      "geneNCBI_id": 3704,
      "geneSymbol": "ITPA",
      "hgvs": [
        "NM_001324240.1:c.124+21A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311169.1:n.124+21A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515839"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 176,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "A",
          "start": 176,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006176",
      "geneNCBI_id": 3704,
      "geneSymbol": "ITPA",
      "hgvs": [
        "NM_001351739.1:c.-274-11A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338668.1:n.-274-11A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520433"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 265,
          "endIntronDirection": "+",
          "endIntronOffset": 21,
          "referenceAllele": "A",
          "start": 265,
          "startIntronDirection": "+",
          "startIntronOffset": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006176",
      "geneNCBI_id": 3704,
      "geneSymbol": "ITPA",
      "hgvs": [
        "NM_181493.3:c.73+21A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_852470.1:n.73+21A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526860"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 599,
          "endIntronDirection": "+",
          "endIntronOffset": 21,
          "referenceAllele": "A",
          "start": 599,
          "startIntronDirection": "+",
          "startIntronOffset": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006176",
      "geneNCBI_id": 3704,
      "geneSymbol": "ITPA",
      "hgvs": [
        "XM_006723564.3:c.124+21A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723627.1:n.124+21A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540778"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 541,
          "endIntronDirection": "-",
          "endIntronOffset": 737,
          "referenceAllele": "A",
          "start": 541,
          "startIntronDirection": "-",
          "startIntronOffset": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006176",
      "geneNCBI_id": 3704,
      "geneSymbol": "ITPA",
      "hgvs": [
        "XM_006723565.3:c.67-738A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723628.1:n.67-738A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540779"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 599,
          "endIntronDirection": "+",
          "endIntronOffset": 21,
          "referenceAllele": "A",
          "start": 599,
          "startIntronDirection": "+",
          "startIntronOffset": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006176",
      "geneNCBI_id": 3704,
      "geneSymbol": "ITPA",
      "hgvs": [
        "XM_011529234.2:c.124+21A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527536.1:n.124+21A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549419"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 541,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "A",
          "start": 541,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006176",
      "geneNCBI_id": 3704,
      "geneSymbol": "ITPA",
      "hgvs": [
        "XM_024451880.1:c.-875-11A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307648.1:n.-875-11A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585387"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 178,
          "endIntronDirection": "+",
          "endIntronOffset": 21,
          "referenceAllele": "A",
          "start": 178,
          "startIntronDirection": "+",
          "startIntronOffset": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006176",
      "geneNCBI_id": 3704,
      "geneSymbol": "ITPA",
      "hgvs": [
        "NM_033453.4:c.124+21A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_258412.1:n.124+21A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671581",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380113.8:c.124+21A>T"
          },
          "RefSeq": {
            "hgvs": "NM_033453.4:c.124+21A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369456.3:n.124+21A>T"
          },
          "RefSeq": {
            "hgvs": "NP_258412.1:n.124+21A>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 120,
          "endIntronDirection": "-",
          "endIntronOffset": 737,
          "referenceAllele": "A",
          "start": 120,
          "startIntronDirection": "-",
          "startIntronOffset": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006176",
      "geneNCBI_id": 3704,
      "geneSymbol": "ITPA",
      "hgvs": [
        "NM_001267623.2:c.67-738A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001254552.1:n.67-738A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680965"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 120,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "A",
          "start": 120,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006176",
      "geneNCBI_id": 3704,
      "geneSymbol": "ITPA",
      "hgvs": [
        "NM_001324236.2:c.-274-11A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311165.1:n.-274-11A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686272"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 416,
          "endIntronDirection": "+",
          "endIntronOffset": 21,
          "referenceAllele": "A",
          "start": 416,
          "startIntronDirection": "+",
          "startIntronOffset": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006176",
      "geneNCBI_id": 3704,
      "geneSymbol": "ITPA",
      "hgvs": [
        "NM_001324237.2:c.-214+21A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311166.1:n.-214+21A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686273"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 358,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "A",
          "start": 358,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006176",
      "geneNCBI_id": 3704,
      "geneSymbol": "ITPA",
      "hgvs": [
        "NM_001324238.2:c.-274-11A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311167.1:n.-274-11A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686274"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 178,
          "endIntronDirection": "+",
          "endIntronOffset": 21,
          "referenceAllele": "A",
          "start": 178,
          "startIntronDirection": "+",
          "startIntronOffset": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006176",
      "geneNCBI_id": 3704,
      "geneSymbol": "ITPA",
      "hgvs": [
        "NM_001324240.2:c.124+21A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001311169.1:n.124+21A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686275"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 38,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "A",
          "start": 38,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006176",
      "geneNCBI_id": 3704,
      "geneSymbol": "ITPA",
      "hgvs": [
        "NM_001351739.2:c.-274-11A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338668.1:n.-274-11A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688960"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 127,
          "endIntronDirection": "+",
          "endIntronOffset": 21,
          "referenceAllele": "A",
          "start": 127,
          "startIntronDirection": "+",
          "startIntronOffset": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006176",
      "geneNCBI_id": 3704,
      "geneSymbol": "ITPA",
      "hgvs": [
        "NM_181493.4:c.73+21A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_852470.1:n.73+21A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700955"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 416,
          "endIntronDirection": "+",
          "endIntronOffset": 21,
          "referenceAllele": "A",
          "start": 416,
          "startIntronDirection": "+",
          "startIntronOffset": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006176",
      "geneNCBI_id": 3704,
      "geneSymbol": "ITPA",
      "hgvs": [
        "NR_052000.2:n.416+21A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702609"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 178,
          "endIntronDirection": "+",
          "endIntronOffset": 21,
          "referenceAllele": "A",
          "start": 178,
          "startIntronDirection": "+",
          "startIntronOffset": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006176",
      "geneNCBI_id": 3704,
      "geneSymbol": "ITPA",
      "hgvs": [
        "NR_052002.2:n.178+21A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702610"
    }
  ],
  "type": "nucleotide"
}