{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7619930",
  "communityStandardTitle": [
    "NM_004727.3(SLC24A1):c.1542C>T (p.Ile514=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=873988[alleleid]",
        "alleleId": 873988,
        "preferredName": "NM_004727.3(SLC24A1):c.1542C>T (p.Ile514=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/886463",
        "RCV": [
          "RCV001118669",
          "RCV001414433"
        ],
        "variationId": 886463
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-65917960-C-T",
        "id": "15-65917960-C-T",
        "variant": "15:65917960 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.65917960C>T?assembly=hg19",
        "id": "chr15:g.65917960C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.65625622C>T?assembly=hg38",
        "id": "chr15:g.65625622C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/372658740",
        "rs": 372658740
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-65917960-C-T?dataset=gnomad_r2_1",
        "id": "15-65917960-C-T",
        "variant": "15:65917960 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-65625622-C-T?dataset=gnomad_r3",
        "id": "15-65625622-C-T",
        "variant": "15:65625622 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-65625622-C-T?dataset=gnomad_r4",
        "id": "15-65625622-C-T",
        "variant": "15:65625622 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 65625622,
          "referenceAllele": "C",
          "start": 65625621
        }
      ],
      "hgvs": [
        "NC_000015.10:g.65625622C>T",
        "CM000677.2:g.65625622C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 65917960,
          "referenceAllele": "C",
          "start": 65917959
        }
      ],
      "hgvs": [
        "NC_000015.9:g.65917960C>T",
        "CM000677.1:g.65917960C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 63705014,
          "referenceAllele": "C",
          "start": 63705013
        }
      ],
      "hgvs": [
        "NC_000015.8:g.63705014C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8691,
          "referenceAllele": "C",
          "start": 8690
        }
      ],
      "hgvs": [
        "NG_031968.1:g.8691C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005064"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 19218,
          "referenceAllele": "C",
          "start": 19217
        }
      ],
      "hgvs": [
        "NG_031968.2:g.19218C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616331"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1823,
          "referenceAllele": "C",
          "start": 1822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "ENST00000261892.11:c.1542C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261892.6:p.Ile514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742238",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261892.11:c.1542C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004727.3:c.1542C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261892.6:p.Ile514="
          },
          "RefSeq": {
            "hgvs": "NP_004718.1:p.Ile514="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1829,
          "referenceAllele": "C",
          "start": 1828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "ENST00000261892.10:c.1542C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261892.6:p.Ile514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250882"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1829,
          "referenceAllele": "C",
          "start": 1828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "ENST00000339868.10:c.1542C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341837.7:p.Ile514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260968"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1624,
          "referenceAllele": "C",
          "start": 1623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "ENST00000399033.8:c.1542C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381991.4:p.Ile514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278524"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 525,
          "endIntronDirection": "-",
          "endIntronOffset": 194,
          "referenceAllele": "C",
          "start": 525,
          "startIntronDirection": "-",
          "startIntronOffset": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "ENST00000425561.3:n.526-195C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS288820"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3017,
          "referenceAllele": "C",
          "start": 3016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "ENST00000434116.6:n.3017C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS292881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2166,
          "referenceAllele": "C",
          "start": 2165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "ENST00000537259.5:c.1542C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439693.1:p.Ile514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360684"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1752,
          "referenceAllele": "C",
          "start": 1751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "ENST00000544319.6:c.1542C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445163.1:p.Ile514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364502"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1542,
          "referenceAllele": "C",
          "start": 1541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "ENST00000546330.1:c.1542C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439190.1:p.Ile514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365573"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826859389",
      "coordinates": [
        {
          "allele": "T",
          "end": 1668,
          "referenceAllele": "C",
          "start": 1667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "NM_001301031.1:c.1542C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287960.1:p.Ile514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826859889",
      "coordinates": [
        {
          "allele": "T",
          "end": 1668,
          "referenceAllele": "C",
          "start": 1667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "NM_001301032.1:c.1542C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287961.1:p.Ile514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025057"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826860481",
      "coordinates": [
        {
          "allele": "T",
          "end": 2166,
          "referenceAllele": "C",
          "start": 2165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "NM_001301033.1:c.1542C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287962.1:p.Ile514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025058"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829562782",
      "coordinates": [
        {
          "allele": "T",
          "end": 1829,
          "referenceAllele": "C",
          "start": 1828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "NM_004727.2:c.1542C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004718.1:p.Ile514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029876"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1803,
          "referenceAllele": "C",
          "start": 1802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_005254778.3:c.1542C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254835.1:p.Ile514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060755"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1803,
          "referenceAllele": "C",
          "start": 1802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_005254781.2:c.1542C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254838.1:p.Ile514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060756"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2507,
          "referenceAllele": "C",
          "start": 2506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_006720764.2:c.1542C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720827.1:p.Ile514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073800"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1803,
          "referenceAllele": "C",
          "start": 1802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_006720767.2:c.1542C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720830.1:p.Ile514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073801"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1803,
          "referenceAllele": "C",
          "start": 1802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_006720768.2:c.1542C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720831.1:p.Ile514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073802"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1803,
          "referenceAllele": "C",
          "start": 1802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_006720769.2:c.1542C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720832.1:p.Ile514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073803"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1897,
          "referenceAllele": "C",
          "start": 1896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_011522219.1:c.1542C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520521.1:p.Ile514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1803,
          "referenceAllele": "C",
          "start": 1802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_011522220.1:c.1542C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520522.1:p.Ile514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1803,
          "referenceAllele": "C",
          "start": 1802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_011522221.1:c.1542C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520523.1:p.Ile514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089377"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1803,
          "referenceAllele": "C",
          "start": 1802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_011522222.1:c.1542C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520524.1:p.Ile514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1803,
          "referenceAllele": "C",
          "start": 1802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_011522223.1:c.1542C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520525.1:p.Ile514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089379"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1803,
          "referenceAllele": "C",
          "start": 1802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_011522225.1:c.1542C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520527.1:p.Ile514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089380"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1803,
          "referenceAllele": "C",
          "start": 1802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_011522226.1:c.1542C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520528.1:p.Ile514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089381"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2608,
          "referenceAllele": "C",
          "start": 2607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_005254778.4:c.1542C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254835.1:p.Ile514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534183"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2608,
          "referenceAllele": "C",
          "start": 2607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_005254781.4:c.1542C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254838.1:p.Ile514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534184"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2608,
          "referenceAllele": "C",
          "start": 2607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_006720768.4:c.1542C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720831.1:p.Ile514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540165"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2608,
          "referenceAllele": "C",
          "start": 2607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_011522220.3:c.1542C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520522.1:p.Ile514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546527"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2608,
          "referenceAllele": "C",
          "start": 2607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_011522221.3:c.1542C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520523.1:p.Ile514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546528"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2608,
          "referenceAllele": "C",
          "start": 2607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_011522222.3:c.1542C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520524.1:p.Ile514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2608,
          "referenceAllele": "C",
          "start": 2607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_011522226.3:c.1542C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520528.1:p.Ile514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2608,
          "referenceAllele": "C",
          "start": 2607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_017022724.2:c.1542C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878213.1:p.Ile514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573633"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2608,
          "referenceAllele": "C",
          "start": 2607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_017022725.2:c.1542C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878214.1:p.Ile514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573634"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2081,
          "referenceAllele": "C",
          "start": 2080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_024450103.1:c.1542C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305871.1:p.Ile514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583644"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2358,
          "referenceAllele": "C",
          "start": 2357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_024450104.1:c.1542C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305872.1:p.Ile514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583645"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2376,
          "referenceAllele": "C",
          "start": 2375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_024450105.1:c.1542C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305873.1:p.Ile514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583646"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2608,
          "referenceAllele": "C",
          "start": 2607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_024450106.1:c.1542C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305874.1:p.Ile514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583647"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829562782",
      "coordinates": [
        {
          "allele": "T",
          "end": 1823,
          "referenceAllele": "C",
          "start": 1822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "NM_004727.3:c.1542C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004718.1:p.Ile514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666625",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261892.11:c.1542C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004727.3:c.1542C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261892.6:p.Ile514="
          },
          "RefSeq": {
            "hgvs": "NP_004718.1:p.Ile514="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826860481",
      "coordinates": [
        {
          "allele": "T",
          "end": 2221,
          "referenceAllele": "C",
          "start": 2220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "NM_001301033.2:c.1542C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287962.1:p.Ile514="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683316"
    }
  ],
  "type": "nucleotide"
}