{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7620229",
  "communityStandardTitle": [
    "NM_004727.3(SLC24A1):c.2838G>A (p.Met946Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=873998[alleleid]",
        "alleleId": 873998,
        "preferredName": "NM_004727.3(SLC24A1):c.2838G>A (p.Met946Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/886521",
        "RCV": [
          "RCV001118755",
          "RCV001856559"
        ],
        "variationId": 886521
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-65944052-G-A",
        "id": "15-65944052-G-A",
        "variant": "15:65944052 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.65944052G>A?assembly=hg19",
        "id": "chr15:g.65944052G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.65651714G>A?assembly=hg38",
        "id": "chr15:g.65651714G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/760348512",
        "rs": 760348512
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-65944052-G-A?dataset=gnomad_r2_1",
        "id": "15-65944052-G-A",
        "variant": "15:65944052 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-65651714-G-A?dataset=gnomad_r4",
        "id": "15-65651714-G-A",
        "variant": "15:65651714 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 65651714,
          "referenceAllele": "G",
          "start": 65651713
        }
      ],
      "hgvs": [
        "NC_000015.10:g.65651714G>A",
        "CM000677.2:g.65651714G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 65944052,
          "referenceAllele": "G",
          "start": 65944051
        }
      ],
      "hgvs": [
        "NC_000015.9:g.65944052G>A",
        "CM000677.1:g.65944052G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 63731106,
          "referenceAllele": "G",
          "start": 63731105
        }
      ],
      "hgvs": [
        "NC_000015.8:g.63731106G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 34783,
          "referenceAllele": "G",
          "start": 34782
        }
      ],
      "hgvs": [
        "NG_031968.1:g.34783G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005064"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 45310,
          "referenceAllele": "G",
          "start": 45309
        }
      ],
      "hgvs": [
        "NG_031968.2:g.45310G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616331"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3119,
          "referenceAllele": "G",
          "start": 3118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "ENST00000261892.11:c.2838G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261892.6:p.Met946Ile",
        "hgvsWellDefined": "ENSP00000261892.6:p.Met946Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742238",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261892.11:c.2838G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004727.3:c.2838G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261892.6:p.Met946Ile"
          },
          "RefSeq": {
            "hgvs": "NP_004718.1:p.Met946Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3125,
          "referenceAllele": "G",
          "start": 3124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "ENST00000261892.10:c.2838G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261892.6:p.Met946Ile",
        "hgvsWellDefined": "ENSP00000261892.6:p.Met946Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250882"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3080,
          "endIntronDirection": "+",
          "endIntronOffset": 772,
          "referenceAllele": "G",
          "start": 3080,
          "startIntronDirection": "+",
          "startIntronOffset": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "ENST00000339868.10:c.2793+772G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341837.7:n.2793+772G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260968"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2875,
          "endIntronDirection": "+",
          "endIntronOffset": 772,
          "referenceAllele": "G",
          "start": 2875,
          "startIntronDirection": "+",
          "startIntronOffset": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "ENST00000399033.8:c.2793+772G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381991.4:n.2793+772G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278524"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4259,
          "referenceAllele": "G",
          "start": 4258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "ENST00000434116.6:n.4259G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS292881"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 887,
          "referenceAllele": "G",
          "start": 886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "ENST00000449142.2:n.887G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS300062"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3408,
          "referenceAllele": "G",
          "start": 3407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "ENST00000537259.5:c.2784G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439693.1:p.Met928Ile",
        "hgvsWellDefined": "ENSP00000439693.1:p.Met928Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360684"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2706,
          "referenceAllele": "G",
          "start": 2705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "ENST00000544319.6:c.2496G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445163.1:p.Met832Ile",
        "hgvsWellDefined": "ENSP00000445163.1:p.Met832Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364502"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2784,
          "referenceAllele": "G",
          "start": 2783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "ENST00000546330.1:c.2784G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439190.1:p.Met928Ile",
        "hgvsWellDefined": "ENSP00000439190.1:p.Met928Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365573"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826365787",
      "coordinates": [
        {
          "allele": "A",
          "end": 887,
          "referenceAllele": "G",
          "start": 886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "NM_001254740.1:c.819G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001241669.1:p.Met273Ile",
        "hgvsWellDefined": "NP_001241669.1:p.Met273Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019018"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2919,
          "endIntronDirection": "+",
          "endIntronOffset": 772,
          "referenceAllele": "G",
          "start": 2919,
          "startIntronDirection": "+",
          "startIntronOffset": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "NM_001301031.1:c.2793+772G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287960.1:n.2793+772G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826860120",
      "coordinates": [
        {
          "allele": "A",
          "end": 2910,
          "referenceAllele": "G",
          "start": 2909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "NM_001301032.1:c.2784G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287961.1:p.Met928Ile",
        "hgvsWellDefined": "NP_001287961.1:p.Met928Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025057"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826860740",
      "coordinates": [
        {
          "allele": "A",
          "end": 3408,
          "referenceAllele": "G",
          "start": 3407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "NM_001301033.1:c.2784G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287962.1:p.Met928Ile",
        "hgvsWellDefined": "NP_001287962.1:p.Met928Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025058"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139701970",
      "coordinates": [
        {
          "allele": "A",
          "end": 3125,
          "referenceAllele": "G",
          "start": 3124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "NM_004727.2:c.2838G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004718.1:p.Met946Ile",
        "hgvsWellDefined": "NP_004718.1:p.Met946Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029876"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3099,
          "referenceAllele": "G",
          "start": 3098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_005254778.3:c.2838G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254835.1:p.Met946Ile",
        "hgvsWellDefined": "XP_005254835.1:p.Met946Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060755"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3803,
          "referenceAllele": "G",
          "start": 3802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_006720764.2:c.2838G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720827.1:p.Met946Ile",
        "hgvsWellDefined": "XP_006720827.1:p.Met946Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073800"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3099,
          "referenceAllele": "G",
          "start": 3098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_006720767.2:c.2838G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720830.1:p.Met946Ile",
        "hgvsWellDefined": "XP_006720830.1:p.Met946Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073801"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2757,
          "referenceAllele": "G",
          "start": 2756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_006720768.2:c.2496G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720831.1:p.Met832Ile",
        "hgvsWellDefined": "XP_006720831.1:p.Met832Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073802"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3054,
          "endIntronDirection": "+",
          "endIntronOffset": 772,
          "referenceAllele": "G",
          "start": 3054,
          "startIntronDirection": "+",
          "startIntronOffset": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_006720769.2:c.2793+772G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720832.1:n.2793+772G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073803"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3193,
          "referenceAllele": "G",
          "start": 3192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_011522219.1:c.2838G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520521.1:p.Met946Ile",
        "hgvsWellDefined": "XP_011520521.1:p.Met946Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089375"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3045,
          "referenceAllele": "G",
          "start": 3044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_011522220.1:c.2784G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520522.1:p.Met928Ile",
        "hgvsWellDefined": "XP_011520522.1:p.Met928Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089376"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3054,
          "endIntronDirection": "+",
          "endIntronOffset": 772,
          "referenceAllele": "G",
          "start": 3054,
          "startIntronDirection": "+",
          "startIntronOffset": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_011522221.1:c.2793+772G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520523.1:n.2793+772G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089377"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3099,
          "referenceAllele": "G",
          "start": 3098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_011522222.1:c.2838G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520524.1:p.Met946Ile",
        "hgvsWellDefined": "XP_011520524.1:p.Met946Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089378"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3045,
          "referenceAllele": "G",
          "start": 3044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_011522223.1:c.2784G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520525.1:p.Met928Ile",
        "hgvsWellDefined": "XP_011520525.1:p.Met928Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089379"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3054,
          "endIntronDirection": "+",
          "endIntronOffset": 772,
          "referenceAllele": "G",
          "start": 3054,
          "startIntronDirection": "+",
          "startIntronOffset": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_011522225.1:c.2793+772G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520527.1:n.2793+772G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089380"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3904,
          "referenceAllele": "G",
          "start": 3903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_005254778.4:c.2838G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254835.1:p.Met946Ile",
        "hgvsWellDefined": "XP_005254835.1:p.Met946Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534183"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3562,
          "referenceAllele": "G",
          "start": 3561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_006720768.4:c.2496G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720831.1:p.Met832Ile",
        "hgvsWellDefined": "XP_006720831.1:p.Met832Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540165"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3850,
          "referenceAllele": "G",
          "start": 3849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_011522220.3:c.2784G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520522.1:p.Met928Ile",
        "hgvsWellDefined": "XP_011520522.1:p.Met928Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546527"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3859,
          "endIntronDirection": "+",
          "endIntronOffset": 772,
          "referenceAllele": "G",
          "start": 3859,
          "startIntronDirection": "+",
          "startIntronOffset": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_011522221.3:c.2793+772G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520523.1:n.2793+772G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546528"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3904,
          "referenceAllele": "G",
          "start": 3903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_011522222.3:c.2838G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520524.1:p.Met946Ile",
        "hgvsWellDefined": "XP_011520524.1:p.Met946Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3904,
          "referenceAllele": "G",
          "start": 3903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_017022724.2:c.2838G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878213.1:p.Met946Ile",
        "hgvsWellDefined": "XP_016878213.1:p.Met946Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573633"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3859,
          "endIntronDirection": "+",
          "endIntronOffset": 772,
          "referenceAllele": "G",
          "start": 3859,
          "startIntronDirection": "+",
          "startIntronOffset": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_017022725.2:c.2793+772G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878214.1:n.2793+772G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573634"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3377,
          "referenceAllele": "G",
          "start": 3376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_024450103.1:c.2838G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305871.1:p.Met946Ile",
        "hgvsWellDefined": "XP_024305871.1:p.Met946Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583644"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3654,
          "referenceAllele": "G",
          "start": 3653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_024450104.1:c.2838G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305872.1:p.Met946Ile",
        "hgvsWellDefined": "XP_024305872.1:p.Met946Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583645"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3672,
          "referenceAllele": "G",
          "start": 3671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_024450105.1:c.2838G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305873.1:p.Met946Ile",
        "hgvsWellDefined": "XP_024305873.1:p.Met946Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583646"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3850,
          "referenceAllele": "G",
          "start": 3849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "XM_024450106.1:c.2784G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305874.1:p.Met928Ile",
        "hgvsWellDefined": "XP_024305874.1:p.Met928Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583647"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139701970",
      "coordinates": [
        {
          "allele": "A",
          "end": 3119,
          "referenceAllele": "G",
          "start": 3118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "NM_004727.3:c.2838G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004718.1:p.Met946Ile",
        "hgvsWellDefined": "NP_004718.1:p.Met946Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666625",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261892.11:c.2838G>A"
          },
          "RefSeq": {
            "hgvs": "NM_004727.3:c.2838G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261892.6:p.Met946Ile"
          },
          "RefSeq": {
            "hgvs": "NP_004718.1:p.Met946Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826365787",
      "coordinates": [
        {
          "allele": "A",
          "end": 913,
          "referenceAllele": "G",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "NM_001254740.2:c.819G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001241669.1:p.Met273Ile",
        "hgvsWellDefined": "NP_001241669.1:p.Met273Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680459"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826860740",
      "coordinates": [
        {
          "allele": "A",
          "end": 3463,
          "referenceAllele": "G",
          "start": 3462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010975",
      "geneNCBI_id": 9187,
      "geneSymbol": "SLC24A1",
      "hgvs": [
        "NM_001301033.2:c.2784G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287962.1:p.Met928Ile",
        "hgvsWellDefined": "NP_001287962.1:p.Met928Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683316"
    }
  ],
  "type": "nucleotide"
}