{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2490505",
  "communityStandardTitle": [
    "NM_001354604.2(MITF):c.881-7T>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=481701[alleleid]",
        "alleleId": 481701,
        "preferredName": "NM_001354604.2(MITF):c.881-7T>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/488962",
        "RCV": [
          "RCV000578647",
          "RCV000767195",
          "RCV002060547"
        ],
        "variationId": 488962
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-70000956-T-A",
        "id": "3-70000956-T-A",
        "variant": "3:70000956 T / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.70000956T>A?assembly=hg19",
        "id": "chr3:g.70000956T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.69951805T>A?assembly=hg38",
        "id": "chr3:g.69951805T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200580325",
        "rs": 200580325
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-70000956-T-A?dataset=gnomad_r2_1",
        "id": "3-70000956-T-A",
        "variant": "3:70000956 T / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-69951805-T-A?dataset=gnomad_r3",
        "id": "3-69951805-T-A",
        "variant": "3:69951805 T / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-69951805-T-A?dataset=gnomad_r4",
        "id": "3-69951805-T-A",
        "variant": "3:69951805 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 69951805,
          "referenceAllele": "T",
          "start": 69951804
        }
      ],
      "hgvs": [
        "NC_000003.12:g.69951805T>A",
        "CM000665.2:g.69951805T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 70000956,
          "referenceAllele": "T",
          "start": 70000955
        }
      ],
      "hgvs": [
        "NC_000003.11:g.70000956T>A",
        "CM000665.1:g.70000956T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 70083646,
          "referenceAllele": "T",
          "start": 70083645
        }
      ],
      "hgvs": [
        "NC_000003.10:g.70083646T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 217324,
          "referenceAllele": "T",
          "start": 217323
        }
      ],
      "hgvs": [
        "NG_011631.1:g.217324T>A",
        "LRG_776:g.217324T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001866"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 899,
          "endIntronDirection": "-",
          "endIntronOffset": 24,
          "referenceAllele": "T",
          "start": 899,
          "startIntronDirection": "-",
          "startIntronOffset": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000314589.11:c.833-25T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324443.5:n.833-25T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904376"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1151,
          "endIntronDirection": "-",
          "endIntronOffset": 24,
          "referenceAllele": "T",
          "start": 1151,
          "startIntronDirection": "-",
          "startIntronOffset": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000687384.1:c.830-25T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510225.1:n.830-25T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831059"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1054,
          "endIntronDirection": "-",
          "endIntronOffset": 24,
          "referenceAllele": "T",
          "start": 1054,
          "startIntronDirection": "-",
          "startIntronOffset": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000689390.1:n.1055-25T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832144"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 943,
          "endIntronDirection": "-",
          "endIntronOffset": 24,
          "referenceAllele": "T",
          "start": 943,
          "startIntronDirection": "-",
          "startIntronOffset": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000693031.1:c.806-25T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509845.1:n.806-25T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834028"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 856,
          "endIntronDirection": "-",
          "endIntronOffset": 24,
          "referenceAllele": "T",
          "start": 856,
          "startIntronDirection": "-",
          "startIntronOffset": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000693549.1:c.833-25T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509358.1:n.833-25T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834302"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 899,
          "endIntronDirection": "-",
          "endIntronOffset": 24,
          "referenceAllele": "T",
          "start": 899,
          "startIntronDirection": "-",
          "startIntronOffset": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000314589.10:c.833-25T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324443.5:n.833-25T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745938"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1014,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 1014,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000352241.9:c.881-7T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295600.8:n.881-7T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748483",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352241.9:c.881-7T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001354604.2:c.881-7T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295600.8:n.881-7T>A"
          },
          "RefSeq": {
            "hgvs": "NP_001341533.1:n.881-7T>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 690,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 690,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000394351.9:c.560-7T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377880.3:n.560-7T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753248",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394351.9:c.560-7T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000248.4:c.560-7T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377880.3:n.560-7T>A"
          },
          "RefSeq": {
            "hgvs": "NP_000239.1:n.560-7T>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 908,
          "endIntronDirection": "-",
          "endIntronOffset": 24,
          "referenceAllele": "T",
          "start": 908,
          "startIntronDirection": "-",
          "startIntronOffset": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000448226.9:c.878-25T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391803.3:n.878-25T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756165"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 996,
          "endIntronDirection": "-",
          "endIntronOffset": 24,
          "referenceAllele": "T",
          "start": 996,
          "startIntronDirection": "-",
          "startIntronOffset": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000642352.1:c.881-25T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494105.1:n.881-25T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766693"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 695,
          "endIntronDirection": "-",
          "endIntronOffset": 24,
          "referenceAllele": "T",
          "start": 695,
          "startIntronDirection": "-",
          "startIntronOffset": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000314557.10:c.560-25T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324246.6:n.560-25T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256974"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 911,
          "endIntronDirection": "-",
          "endIntronOffset": 24,
          "referenceAllele": "T",
          "start": 911,
          "startIntronDirection": "-",
          "startIntronOffset": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000314589.9:c.833-25T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324443.5:n.833-25T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256980"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 908,
          "endIntronDirection": "-",
          "endIntronOffset": 24,
          "referenceAllele": "T",
          "start": 908,
          "startIntronDirection": "-",
          "startIntronOffset": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000328528.10:c.878-25T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327867.6:n.878-25T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258925"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1043,
          "endIntronDirection": "-",
          "endIntronOffset": 24,
          "referenceAllele": "T",
          "start": 1043,
          "startIntronDirection": "-",
          "startIntronOffset": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000352241.8:c.881-25T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295600.7:n.881-25T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262847"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 679,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 679,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000394351.7:c.560-7T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377880.3:n.560-7T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1007,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 1007,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000448226.6:c.881-7T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391803.2:n.881-7T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299629"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 864,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 864,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000451708.5:c.833-7T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398639.1:n.833-7T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301298"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 913,
          "endIntronDirection": "-",
          "endIntronOffset": 24,
          "referenceAllele": "T",
          "start": 913,
          "startIntronDirection": "-",
          "startIntronOffset": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000472437.5:c.725-25T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418845.1:n.725-25T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS314406"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 619,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 619,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000478490.5:c.*207-7T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433487.1:n.*207-7T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319090"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 391,
          "endIntronDirection": "-",
          "endIntronOffset": 24,
          "referenceAllele": "T",
          "start": 391,
          "startIntronDirection": "-",
          "startIntronOffset": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000531774.1:c.392-25T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435909.1:n.392-25T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356810"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 682,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 682,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_000248.3:c.560-7T>A",
        "LRG_776t1:c.560-7T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000239.1:n.560-7T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006310"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 913,
          "endIntronDirection": "-",
          "endIntronOffset": 24,
          "referenceAllele": "T",
          "start": 913,
          "startIntronDirection": "-",
          "startIntronOffset": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001184967.1:c.725-25T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171896.1:n.725-25T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016055"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 908,
          "endIntronDirection": "-",
          "endIntronOffset": 24,
          "referenceAllele": "T",
          "start": 908,
          "startIntronDirection": "-",
          "startIntronOffset": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_006722.2:c.878-25T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006713.1:n.878-25T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031711"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 682,
          "endIntronDirection": "-",
          "endIntronOffset": 24,
          "referenceAllele": "T",
          "start": 682,
          "startIntronDirection": "-",
          "startIntronOffset": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198158.2:c.560-25T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937801.1:n.560-25T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044446"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1043,
          "endIntronDirection": "-",
          "endIntronOffset": 24,
          "referenceAllele": "T",
          "start": 1043,
          "startIntronDirection": "-",
          "startIntronOffset": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198159.2:c.881-25T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937802.1:n.881-25T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044447"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 899,
          "endIntronDirection": "-",
          "endIntronOffset": 24,
          "referenceAllele": "T",
          "start": 899,
          "startIntronDirection": "-",
          "startIntronOffset": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198177.2:c.833-25T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937820.1:n.833-25T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044451"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 514,
          "endIntronDirection": "-",
          "endIntronOffset": 24,
          "referenceAllele": "T",
          "start": 514,
          "startIntronDirection": "-",
          "startIntronOffset": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198178.2:c.392-25T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937821.2:n.392-25T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044452"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1015,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 1015,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_005264754.1:c.881-7T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264811.1:n.881-7T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064358"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 894,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 894,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_005264755.2:c.833-7T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264812.1:n.833-7T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064359"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1035,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 1035,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_006713164.2:c.725-7T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713227.1:n.725-7T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070030"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1018,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 1018,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_011533722.1:c.878-7T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532024.1:n.878-7T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100743"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 881,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 881,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_011533723.1:c.830-7T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532025.1:n.830-7T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100744"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 908,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 908,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_011533724.1:c.725-7T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532026.1:n.725-7T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100745"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 875,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 875,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_011533725.1:c.713-7T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532027.1:n.713-7T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100746"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 875,
          "endIntronDirection": "-",
          "endIntronOffset": 24,
          "referenceAllele": "T",
          "start": 875,
          "startIntronDirection": "-",
          "startIntronOffset": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_011533726.1:c.713-25T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532028.1:n.713-25T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1043,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 1043,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354604.1:c.881-7T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341533.1:n.881-7T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522548"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1040,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 1040,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354605.1:c.878-7T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341534.1:n.878-7T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522549"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1040,
          "endIntronDirection": "-",
          "endIntronOffset": 24,
          "referenceAllele": "T",
          "start": 1040,
          "startIntronDirection": "-",
          "startIntronOffset": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354606.1:c.878-25T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341535.1:n.878-25T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522550"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1172,
          "endIntronDirection": "-",
          "endIntronOffset": 24,
          "referenceAllele": "T",
          "start": 1172,
          "startIntronDirection": "-",
          "startIntronOffset": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354607.1:c.830-25T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341536.1:n.830-25T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522551"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1082,
          "endIntronDirection": "-",
          "endIntronOffset": 24,
          "referenceAllele": "T",
          "start": 1082,
          "startIntronDirection": "-",
          "startIntronOffset": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354608.1:c.725-25T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341537.1:n.725-25T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522552"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 965,
          "endIntronDirection": "-",
          "endIntronOffset": 24,
          "referenceAllele": "T",
          "start": 965,
          "startIntronDirection": "-",
          "startIntronOffset": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001184967.2:c.725-25T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171896.1:n.725-25T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679051"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1014,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 1014,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354604.2:c.881-7T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341533.1:n.881-7T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690248",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352241.9:c.881-7T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001354604.2:c.881-7T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295600.8:n.881-7T>A"
          },
          "RefSeq": {
            "hgvs": "NP_001341533.1:n.881-7T>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1011,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 1011,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354605.2:c.878-7T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341534.1:n.878-7T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690249"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1011,
          "endIntronDirection": "-",
          "endIntronOffset": 24,
          "referenceAllele": "T",
          "start": 1011,
          "startIntronDirection": "-",
          "startIntronOffset": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354606.2:c.878-25T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341535.1:n.878-25T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690250"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1143,
          "endIntronDirection": "-",
          "endIntronOffset": 24,
          "referenceAllele": "T",
          "start": 1143,
          "startIntronDirection": "-",
          "startIntronOffset": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354607.2:c.830-25T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341536.1:n.830-25T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690251"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1053,
          "endIntronDirection": "-",
          "endIntronOffset": 24,
          "referenceAllele": "T",
          "start": 1053,
          "startIntronDirection": "-",
          "startIntronOffset": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354608.2:c.725-25T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341537.1:n.725-25T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690252"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 690,
          "endIntronDirection": "-",
          "endIntronOffset": 24,
          "referenceAllele": "T",
          "start": 690,
          "startIntronDirection": "-",
          "startIntronOffset": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198158.3:c.560-25T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937801.1:n.560-25T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701263"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1014,
          "endIntronDirection": "-",
          "endIntronOffset": 24,
          "referenceAllele": "T",
          "start": 1014,
          "startIntronDirection": "-",
          "startIntronOffset": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198159.3:c.881-25T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937802.1:n.881-25T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701264"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 899,
          "endIntronDirection": "-",
          "endIntronOffset": 24,
          "referenceAllele": "T",
          "start": 899,
          "startIntronDirection": "-",
          "startIntronOffset": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198177.3:c.833-25T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937820.1:n.833-25T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701267"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 522,
          "endIntronDirection": "-",
          "endIntronOffset": 24,
          "referenceAllele": "T",
          "start": 522,
          "startIntronDirection": "-",
          "startIntronOffset": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198178.3:c.392-25T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_937821.2:n.392-25T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701268"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 690,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 690,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_000248.4:c.560-7T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000239.1:n.560-7T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710814",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394351.9:c.560-7T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000248.4:c.560-7T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377880.3:n.560-7T>A"
          },
          "RefSeq": {
            "hgvs": "NP_000239.1:n.560-7T>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 908,
          "endIntronDirection": "-",
          "endIntronOffset": 24,
          "referenceAllele": "T",
          "start": 908,
          "startIntronDirection": "-",
          "startIntronOffset": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_006722.3:c.878-25T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006713.1:n.878-25T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727772"
    }
  ],
  "type": "nucleotide"
}