{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA353561887",
  "communityStandardTitle": [
    "NM_001354604.2(MITF):c.1039C>G (p.Arg347Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=535381[alleleid]",
        "alleleId": 535381,
        "preferredName": "NM_001354604.2(MITF):c.1039C>G (p.Arg347Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/545117",
        "RCV": [
          "RCV000721954",
          "RCV001756113"
        ],
        "variationId": 545117
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.70008431C>G?assembly=hg19",
        "id": "chr3:g.70008431C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.69959280C>G?assembly=hg38",
        "id": "chr3:g.69959280C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1559751245",
        "rs": 1559751245
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-69959280-C-G?dataset=gnomad_r4",
        "id": "3-69959280-C-G",
        "variant": "3:69959280 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 69959280,
          "referenceAllele": "C",
          "start": 69959279
        }
      ],
      "hgvs": [
        "NC_000003.12:g.69959280C>G",
        "CM000665.2:g.69959280C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 70008431,
          "referenceAllele": "C",
          "start": 70008430
        }
      ],
      "hgvs": [
        "NC_000003.11:g.70008431C>G",
        "CM000665.1:g.70008431C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 70091121,
          "referenceAllele": "C",
          "start": 70091120
        }
      ],
      "hgvs": [
        "NC_000003.10:g.70091121C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 224799,
          "referenceAllele": "C",
          "start": 224798
        }
      ],
      "hgvs": [
        "NG_011631.1:g.224799C>G",
        "LRG_776:g.224799C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001866"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1040,
          "referenceAllele": "C",
          "start": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000314589.11:c.973C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324443.5:p.Arg325Gly",
        "hgvsWellDefined": "ENSP00000324443.5:p.Arg325Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904376"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1292,
          "referenceAllele": "C",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000687384.1:c.970C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510225.1:p.Arg324Gly",
        "hgvsWellDefined": "ENSP00000510225.1:p.Arg324Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831059"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1195,
          "referenceAllele": "C",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000689390.1:n.1195C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832144"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1084,
          "referenceAllele": "C",
          "start": 1083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000693031.1:c.946C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509845.1:p.Arg316Gly",
        "hgvsWellDefined": "ENSP00000509845.1:p.Arg316Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834028"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 997,
          "referenceAllele": "C",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000693549.1:c.973C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509358.1:p.Arg325Gly",
        "hgvsWellDefined": "ENSP00000509358.1:p.Arg325Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834302"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1040,
          "referenceAllele": "C",
          "start": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000314589.10:c.973C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324443.5:p.Arg325Gly",
        "hgvsWellDefined": "ENSP00000324443.5:p.Arg325Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745938"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1173,
          "referenceAllele": "C",
          "start": 1172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000352241.9:c.1039C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295600.8:p.Arg347Gly",
        "hgvsWellDefined": "ENSP00000295600.8:p.Arg347Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748483",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352241.9:c.1039C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001354604.2:c.1039C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295600.8:p.Arg347Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001341533.1:p.Arg347Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 849,
          "referenceAllele": "C",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000394351.9:c.718C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377880.3:p.Arg240Gly",
        "hgvsWellDefined": "ENSP00000377880.3:p.Arg240Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753248",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394351.9:c.718C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000248.4:c.718C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377880.3:p.Arg240Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000239.1:p.Arg240Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1049,
          "referenceAllele": "C",
          "start": 1048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000448226.9:c.1018C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391803.3:p.Arg340Gly",
        "hgvsWellDefined": "ENSP00000391803.3:p.Arg340Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756165"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1137,
          "referenceAllele": "C",
          "start": 1136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000642352.1:c.1021C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494105.1:p.Arg341Gly",
        "hgvsWellDefined": "ENSP00000494105.1:p.Arg341Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766693"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 836,
          "referenceAllele": "C",
          "start": 835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000314557.10:c.700C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324246.6:p.Arg234Gly",
        "hgvsWellDefined": "ENSP00000324246.6:p.Arg234Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256974"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1052,
          "referenceAllele": "C",
          "start": 1051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000314589.9:c.973C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324443.5:p.Arg325Gly",
        "hgvsWellDefined": "ENSP00000324443.5:p.Arg325Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256980"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1049,
          "referenceAllele": "C",
          "start": 1048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000328528.10:c.1018C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327867.6:p.Arg340Gly",
        "hgvsWellDefined": "ENSP00000327867.6:p.Arg340Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258925"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1184,
          "referenceAllele": "C",
          "start": 1183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000352241.8:c.1021C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295600.7:p.Arg341Gly",
        "hgvsWellDefined": "ENSP00000295600.7:p.Arg341Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262847"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 838,
          "referenceAllele": "C",
          "start": 837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000394351.7:c.718C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377880.3:p.Arg240Gly",
        "hgvsWellDefined": "ENSP00000377880.3:p.Arg240Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276136"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1166,
          "referenceAllele": "C",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000448226.6:c.1039C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391803.2:p.Arg347Gly",
        "hgvsWellDefined": "ENSP00000391803.2:p.Arg347Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299629"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1023,
          "referenceAllele": "C",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000451708.5:c.991C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398639.1:p.Arg331Gly",
        "hgvsWellDefined": "ENSP00000398639.1:p.Arg331Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301298"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1054,
          "referenceAllele": "C",
          "start": 1053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000472437.5:c.865C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418845.1:p.Arg289Gly",
        "hgvsWellDefined": "ENSP00000418845.1:p.Arg289Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS314406"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 778,
          "referenceAllele": "C",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000478490.5:c.*365C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433487.1:n.*365C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319090"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 532,
          "referenceAllele": "C",
          "start": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000531774.1:c.532C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435909.1:p.Arg178Gly",
        "hgvsWellDefined": "ENSP00000435909.1:p.Arg178Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356810"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825105588",
      "coordinates": [
        {
          "allele": "G",
          "end": 841,
          "referenceAllele": "C",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_000248.3:c.718C>G",
        "LRG_776t1:c.718C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000239.1:p.Arg240Gly",
        "hgvsWellDefined": "NP_000239.1:p.Arg240Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006310"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826151410",
      "coordinates": [
        {
          "allele": "G",
          "end": 1054,
          "referenceAllele": "C",
          "start": 1053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001184967.1:c.865C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171896.1:p.Arg289Gly",
        "hgvsWellDefined": "NP_001171896.1:p.Arg289Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016055"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829651271",
      "coordinates": [
        {
          "allele": "G",
          "end": 1049,
          "referenceAllele": "C",
          "start": 1048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_006722.2:c.1018C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_006713.1:p.Arg340Gly",
        "hgvsWellDefined": "NP_006713.1:p.Arg340Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031711"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830431304",
      "coordinates": [
        {
          "allele": "G",
          "end": 823,
          "referenceAllele": "C",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198158.2:c.700C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_937801.1:p.Arg234Gly",
        "hgvsWellDefined": "NP_937801.1:p.Arg234Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044446"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891866516",
      "coordinates": [
        {
          "allele": "G",
          "end": 1184,
          "referenceAllele": "C",
          "start": 1183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198159.2:c.1021C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_937802.1:p.Arg341Gly",
        "hgvsWellDefined": "NP_937802.1:p.Arg341Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044447"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830432914",
      "coordinates": [
        {
          "allele": "G",
          "end": 1040,
          "referenceAllele": "C",
          "start": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198177.2:c.973C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_937820.1:p.Arg325Gly",
        "hgvsWellDefined": "NP_937820.1:p.Arg325Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044451"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830433442",
      "coordinates": [
        {
          "allele": "G",
          "end": 655,
          "referenceAllele": "C",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198178.2:c.532C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_937821.2:p.Arg178Gly",
        "hgvsWellDefined": "NP_937821.2:p.Arg178Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044452"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1174,
          "referenceAllele": "C",
          "start": 1173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_005264754.1:c.1039C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264811.1:p.Arg347Gly",
        "hgvsWellDefined": "XP_005264811.1:p.Arg347Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064358"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1053,
          "referenceAllele": "C",
          "start": 1052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_005264755.2:c.991C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264812.1:p.Arg331Gly",
        "hgvsWellDefined": "XP_005264812.1:p.Arg331Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064359"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1194,
          "referenceAllele": "C",
          "start": 1193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_006713164.2:c.883C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713227.1:p.Arg295Gly",
        "hgvsWellDefined": "XP_006713227.1:p.Arg295Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070030"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1177,
          "referenceAllele": "C",
          "start": 1176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_011533722.1:c.1036C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532024.1:p.Arg346Gly",
        "hgvsWellDefined": "XP_011532024.1:p.Arg346Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100743"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1040,
          "referenceAllele": "C",
          "start": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_011533723.1:c.988C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532025.1:p.Arg330Gly",
        "hgvsWellDefined": "XP_011532025.1:p.Arg330Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100744"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1067,
          "referenceAllele": "C",
          "start": 1066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_011533724.1:c.883C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532026.1:p.Arg295Gly",
        "hgvsWellDefined": "XP_011532026.1:p.Arg295Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100745"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1034,
          "referenceAllele": "C",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_011533725.1:c.871C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532027.1:p.Arg291Gly",
        "hgvsWellDefined": "XP_011532027.1:p.Arg291Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100746"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1016,
          "referenceAllele": "C",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_011533726.1:c.853C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532028.1:p.Arg285Gly",
        "hgvsWellDefined": "XP_011532028.1:p.Arg285Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100747"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916038026",
      "coordinates": [
        {
          "allele": "G",
          "end": 1202,
          "referenceAllele": "C",
          "start": 1201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354604.1:c.1039C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341533.1:p.Arg347Gly",
        "hgvsWellDefined": "NP_001341533.1:p.Arg347Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522548"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827881643",
      "coordinates": [
        {
          "allele": "G",
          "end": 1199,
          "referenceAllele": "C",
          "start": 1198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354605.1:c.1036C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341534.1:p.Arg346Gly",
        "hgvsWellDefined": "NP_001341534.1:p.Arg346Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522549"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827882012",
      "coordinates": [
        {
          "allele": "G",
          "end": 1181,
          "referenceAllele": "C",
          "start": 1180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354606.1:c.1018C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341535.1:p.Arg340Gly",
        "hgvsWellDefined": "NP_001341535.1:p.Arg340Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522550"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827882379",
      "coordinates": [
        {
          "allele": "G",
          "end": 1313,
          "referenceAllele": "C",
          "start": 1312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354607.1:c.970C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341536.1:p.Arg324Gly",
        "hgvsWellDefined": "NP_001341536.1:p.Arg324Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522551"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827882725",
      "coordinates": [
        {
          "allele": "G",
          "end": 1223,
          "referenceAllele": "C",
          "start": 1222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354608.1:c.865C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341537.1:p.Arg289Gly",
        "hgvsWellDefined": "NP_001341537.1:p.Arg289Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522552"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826151410",
      "coordinates": [
        {
          "allele": "G",
          "end": 1106,
          "referenceAllele": "C",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001184967.2:c.865C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171896.1:p.Arg289Gly",
        "hgvsWellDefined": "NP_001171896.1:p.Arg289Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916038026",
      "coordinates": [
        {
          "allele": "G",
          "end": 1173,
          "referenceAllele": "C",
          "start": 1172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354604.2:c.1039C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341533.1:p.Arg347Gly",
        "hgvsWellDefined": "NP_001341533.1:p.Arg347Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690248",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352241.9:c.1039C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001354604.2:c.1039C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295600.8:p.Arg347Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001341533.1:p.Arg347Gly"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827881643",
      "coordinates": [
        {
          "allele": "G",
          "end": 1170,
          "referenceAllele": "C",
          "start": 1169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354605.2:c.1036C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341534.1:p.Arg346Gly",
        "hgvsWellDefined": "NP_001341534.1:p.Arg346Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690249"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827882012",
      "coordinates": [
        {
          "allele": "G",
          "end": 1152,
          "referenceAllele": "C",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354606.2:c.1018C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341535.1:p.Arg340Gly",
        "hgvsWellDefined": "NP_001341535.1:p.Arg340Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690250"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827882379",
      "coordinates": [
        {
          "allele": "G",
          "end": 1284,
          "referenceAllele": "C",
          "start": 1283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354607.2:c.970C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341536.1:p.Arg324Gly",
        "hgvsWellDefined": "NP_001341536.1:p.Arg324Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690251"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827882725",
      "coordinates": [
        {
          "allele": "G",
          "end": 1194,
          "referenceAllele": "C",
          "start": 1193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354608.2:c.865C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341537.1:p.Arg289Gly",
        "hgvsWellDefined": "NP_001341537.1:p.Arg289Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690252"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830431304",
      "coordinates": [
        {
          "allele": "G",
          "end": 831,
          "referenceAllele": "C",
          "start": 830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198158.3:c.700C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_937801.1:p.Arg234Gly",
        "hgvsWellDefined": "NP_937801.1:p.Arg234Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701263"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891866516",
      "coordinates": [
        {
          "allele": "G",
          "end": 1155,
          "referenceAllele": "C",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198159.3:c.1021C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_937802.1:p.Arg341Gly",
        "hgvsWellDefined": "NP_937802.1:p.Arg341Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701264"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830432914",
      "coordinates": [
        {
          "allele": "G",
          "end": 1040,
          "referenceAllele": "C",
          "start": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198177.3:c.973C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_937820.1:p.Arg325Gly",
        "hgvsWellDefined": "NP_937820.1:p.Arg325Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701267"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830433442",
      "coordinates": [
        {
          "allele": "G",
          "end": 663,
          "referenceAllele": "C",
          "start": 662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198178.3:c.532C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_937821.2:p.Arg178Gly",
        "hgvsWellDefined": "NP_937821.2:p.Arg178Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701268"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825105588",
      "coordinates": [
        {
          "allele": "G",
          "end": 849,
          "referenceAllele": "C",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_000248.4:c.718C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000239.1:p.Arg240Gly",
        "hgvsWellDefined": "NP_000239.1:p.Arg240Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710814",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394351.9:c.718C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000248.4:c.718C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377880.3:p.Arg240Gly"
          },
          "RefSeq": {
            "hgvs": "NP_000239.1:p.Arg240Gly"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829651271",
      "coordinates": [
        {
          "allele": "G",
          "end": 1049,
          "referenceAllele": "C",
          "start": 1048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_006722.3:c.1018C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_006713.1:p.Arg340Gly",
        "hgvsWellDefined": "NP_006713.1:p.Arg340Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727772"
    }
  ],
  "type": "nucleotide"
}