{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7620116",
  "communityStandardTitle": [
    "NM_004727.3(SLC24A1):c.2226C>T (p.Gly742=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=873995[alleleid]",
        "alleleId": 873995,
        "preferredName": "NM_004727.3(SLC24A1):c.2226C>T (p.Gly742=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/884564",
        "RCV": [
          "RCV001115694",
          "RCV001308408"
        ],
        "variationId": 884564
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-65938035-C-T",
        "id": "15-65938035-C-T",
        "variant": "15:65938035 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.65938035C>T?assembly=hg19",
        "id": "chr15:g.65938035C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.65645697C>T?assembly=hg38",
        "id": "chr15:g.65645697C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/372137068",
        "rs": 372137068
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-65938035-C-T?dataset=gnomad_r2_1",
        "id": "15-65938035-C-T",
        "variant": "15:65938035 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-65645697-C-T?dataset=gnomad_r3",
        "id": "15-65645697-C-T",
        "variant": "15:65645697 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-65645697-C-T?dataset=gnomad_r4",
        "id": "15-65645697-C-T",
        "variant": "15:65645697 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 65645697,
          "referenceAllele": "C",
          "start": 65645696
        }
      ],
      "hgvs": [
        "NC_000015.10:g.65645697C>T",
        "CM000677.2:g.65645697C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 65938035,
          "referenceAllele": "C",
          "start": 65938034
        }
      ],
      "hgvs": [
        "NC_000015.9:g.65938035C>T",
        "CM000677.1:g.65938035C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 63725089,
          "referenceAllele": "C",
          "start": 63725088
        }
      ],
      "hgvs": [
        "NC_000015.8:g.63725089C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 28766,
          "referenceAllele": "C",
          "start": 28765
        }
      ],
      "hgvs": [
        "NG_031968.1:g.28766C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005064"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 39293,
          "referenceAllele": "C",
          "start": 39292
        }
      ],
      "hgvs": [
        "NG_031968.2:g.39293C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616331"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2507,
          "referenceAllele": "C",
          "start": 2506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "ENST00000261892.11:c.2226C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261892.6:p.Gly742="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742238",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261892.11:c.2226C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004727.3:c.2226C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261892.6:p.Gly742="
          },
          "RefSeq": {
            "hgvs": "NP_004718.1:p.Gly742="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2513,
          "referenceAllele": "C",
          "start": 2512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "ENST00000261892.10:c.2226C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261892.6:p.Gly742="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250882"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2513,
          "referenceAllele": "C",
          "start": 2512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "ENST00000339868.10:c.2226C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341837.7:p.Gly742="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260968"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2308,
          "referenceAllele": "C",
          "start": 2307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "ENST00000399033.8:c.2226C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381991.4:p.Gly742="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278524"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3647,
          "referenceAllele": "C",
          "start": 3646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "ENST00000434116.6:n.3647C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS292881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 275,
          "referenceAllele": "C",
          "start": 274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "ENST00000449142.2:n.275C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS300062"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2796,
          "referenceAllele": "C",
          "start": 2795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "ENST00000537259.5:c.2172C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439693.1:p.Gly724="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360684"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 586,
          "endIntronDirection": "+",
          "endIntronOffset": 1184,
          "referenceAllele": "C",
          "start": 586,
          "startIntronDirection": "+",
          "startIntronOffset": 1183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "ENST00000539516.1:n.586+1184C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS361899"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2100,
          "endIntronDirection": "-",
          "endIntronOffset": 4684,
          "referenceAllele": "C",
          "start": 2100,
          "startIntronDirection": "-",
          "startIntronOffset": 4685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "ENST00000544319.6:c.1891-4685C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445163.1:n.1891-4685C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364502"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2172,
          "referenceAllele": "C",
          "start": 2171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "ENST00000546330.1:c.2172C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439190.1:p.Gly724="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365573"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826365688",
      "coordinates": [
        {
          "allele": "T",
          "end": 275,
          "referenceAllele": "C",
          "start": 274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "NM_001254740.1:c.207C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001241669.1:p.Gly69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019018"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826859503",
      "coordinates": [
        {
          "allele": "T",
          "end": 2352,
          "referenceAllele": "C",
          "start": 2351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "NM_001301031.1:c.2226C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287960.1:p.Gly742="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826859991",
      "coordinates": [
        {
          "allele": "T",
          "end": 2298,
          "referenceAllele": "C",
          "start": 2297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "NM_001301032.1:c.2172C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287961.1:p.Gly724="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025057"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826860604",
      "coordinates": [
        {
          "allele": "T",
          "end": 2796,
          "referenceAllele": "C",
          "start": 2795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "NM_001301033.1:c.2172C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287962.1:p.Gly724="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025058"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829562869",
      "coordinates": [
        {
          "allele": "T",
          "end": 2513,
          "referenceAllele": "C",
          "start": 2512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "NM_004727.2:c.2226C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004718.1:p.Gly742="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029876"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2487,
          "referenceAllele": "C",
          "start": 2486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_005254778.3:c.2226C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254835.1:p.Gly742="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060755"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2401,
          "endIntronDirection": "+",
          "endIntronOffset": 1184,
          "referenceAllele": "C",
          "start": 2401,
          "startIntronDirection": "+",
          "startIntronOffset": 1183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_005254781.2:c.2140+1184C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254838.1:n.2140+1184C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060756"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3191,
          "referenceAllele": "C",
          "start": 3190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_006720764.2:c.2226C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720827.1:p.Gly742="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073800"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2487,
          "referenceAllele": "C",
          "start": 2486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_006720767.2:c.2226C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720830.1:p.Gly742="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073801"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2151,
          "endIntronDirection": "-",
          "endIntronOffset": 4684,
          "referenceAllele": "C",
          "start": 2151,
          "startIntronDirection": "-",
          "startIntronOffset": 4685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_006720768.2:c.1891-4685C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720831.1:n.1891-4685C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073802"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2487,
          "referenceAllele": "C",
          "start": 2486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_006720769.2:c.2226C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720832.1:p.Gly742="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073803"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2581,
          "referenceAllele": "C",
          "start": 2580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_011522219.1:c.2226C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520521.1:p.Gly742="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2433,
          "referenceAllele": "C",
          "start": 2432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_011522220.1:c.2172C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520522.1:p.Gly724="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089376"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2487,
          "referenceAllele": "C",
          "start": 2486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_011522221.1:c.2226C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520523.1:p.Gly742="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089377"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2487,
          "referenceAllele": "C",
          "start": 2486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_011522222.1:c.2226C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520524.1:p.Gly742="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2433,
          "referenceAllele": "C",
          "start": 2432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_011522223.1:c.2172C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520525.1:p.Gly724="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089379"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2487,
          "referenceAllele": "C",
          "start": 2486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_011522225.1:c.2226C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520527.1:p.Gly742="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089380"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2314,
          "endIntronDirection": "-",
          "endIntronOffset": 4684,
          "referenceAllele": "C",
          "start": 2314,
          "startIntronDirection": "-",
          "startIntronOffset": 4685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_011522226.1:c.2054-4685C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520528.1:n.2054-4685C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089381"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3292,
          "referenceAllele": "C",
          "start": 3291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_005254778.4:c.2226C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254835.1:p.Gly742="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534183"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3206,
          "endIntronDirection": "+",
          "endIntronOffset": 1184,
          "referenceAllele": "C",
          "start": 3206,
          "startIntronDirection": "+",
          "startIntronOffset": 1183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_005254781.4:c.2140+1184C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254838.1:n.2140+1184C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534184"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2956,
          "endIntronDirection": "-",
          "endIntronOffset": 4684,
          "referenceAllele": "C",
          "start": 2956,
          "startIntronDirection": "-",
          "startIntronOffset": 4685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_006720768.4:c.1891-4685C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720831.1:n.1891-4685C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540165"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3238,
          "referenceAllele": "C",
          "start": 3237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_011522220.3:c.2172C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520522.1:p.Gly724="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546527"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3292,
          "referenceAllele": "C",
          "start": 3291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_011522221.3:c.2226C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520523.1:p.Gly742="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546528"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3292,
          "referenceAllele": "C",
          "start": 3291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_011522222.3:c.2226C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520524.1:p.Gly742="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3119,
          "endIntronDirection": "-",
          "endIntronOffset": 4684,
          "referenceAllele": "C",
          "start": 3119,
          "startIntronDirection": "-",
          "startIntronOffset": 4685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_011522226.3:c.2054-4685C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520528.1:n.2054-4685C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3292,
          "referenceAllele": "C",
          "start": 3291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_017022724.2:c.2226C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878213.1:p.Gly742="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573633"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3292,
          "referenceAllele": "C",
          "start": 3291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_017022725.2:c.2226C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878214.1:p.Gly742="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573634"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2765,
          "referenceAllele": "C",
          "start": 2764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_024450103.1:c.2226C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305871.1:p.Gly742="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583644"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3042,
          "referenceAllele": "C",
          "start": 3041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_024450104.1:c.2226C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305872.1:p.Gly742="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583645"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3060,
          "referenceAllele": "C",
          "start": 3059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_024450105.1:c.2226C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305873.1:p.Gly742="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583646"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3238,
          "referenceAllele": "C",
          "start": 3237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_024450106.1:c.2172C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305874.1:p.Gly724="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583647"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829562869",
      "coordinates": [
        {
          "allele": "T",
          "end": 2507,
          "referenceAllele": "C",
          "start": 2506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "NM_004727.3:c.2226C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004718.1:p.Gly742="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666625",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261892.11:c.2226C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004727.3:c.2226C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261892.6:p.Gly742="
          },
          "RefSeq": {
            "hgvs": "NP_004718.1:p.Gly742="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826365688",
      "coordinates": [
        {
          "allele": "T",
          "end": 301,
          "referenceAllele": "C",
          "start": 300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "NM_001254740.2:c.207C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001241669.1:p.Gly69="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680459"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826860604",
      "coordinates": [
        {
          "allele": "T",
          "end": 2851,
          "referenceAllele": "C",
          "start": 2850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "NM_001301033.2:c.2172C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287962.1:p.Gly724="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683316"
    }
  ],
  "type": "nucleotide"
}