{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2490626",
  "communityStandardTitle": [
    "NM_001354604.2(MITF):c.1222C>G (p.Pro408Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=295984[alleleid]",
        "alleleId": 295984,
        "preferredName": "NM_001354604.2(MITF):c.1222C>G (p.Pro408Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/346497",
        "RCV": [
          "RCV000273610",
          "RCV000356640",
          "RCV002520181",
          "RCV004021928"
        ],
        "variationId": 346497
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-70014040-C-G",
        "id": "3-70014040-C-G",
        "variant": "3:70014040 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.70014040C>G?assembly=hg19",
        "id": "chr3:g.70014040C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.69964889C>G?assembly=hg38",
        "id": "chr3:g.69964889C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199992377",
        "rs": 199992377
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-70014040-C-G?dataset=gnomad_r2_1",
        "id": "3-70014040-C-G",
        "variant": "3:70014040 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-69964889-C-G?dataset=gnomad_r3",
        "id": "3-69964889-C-G",
        "variant": "3:69964889 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-69964889-C-G?dataset=gnomad_r4",
        "id": "3-69964889-C-G",
        "variant": "3:69964889 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 69964889,
          "referenceAllele": "C",
          "start": 69964888
        }
      ],
      "hgvs": [
        "NC_000003.12:g.69964889C>G",
        "CM000665.2:g.69964889C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 70014040,
          "referenceAllele": "C",
          "start": 70014039
        }
      ],
      "hgvs": [
        "NC_000003.11:g.70014040C>G",
        "CM000665.1:g.70014040C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 70096730,
          "referenceAllele": "C",
          "start": 70096729
        }
      ],
      "hgvs": [
        "NC_000003.10:g.70096730C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 230408,
          "referenceAllele": "C",
          "start": 230407
        }
      ],
      "hgvs": [
        "NG_011631.1:g.230408C>G",
        "LRG_776:g.230408C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001866"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1223,
          "referenceAllele": "C",
          "start": 1222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000314589.11:c.1156C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324443.5:p.Pro386Ala",
        "hgvsWellDefined": "ENSP00000324443.5:p.Pro386Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904376"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1475,
          "referenceAllele": "C",
          "start": 1474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000687384.1:c.1153C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510225.1:p.Pro385Ala",
        "hgvsWellDefined": "ENSP00000510225.1:p.Pro385Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831059"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1378,
          "referenceAllele": "C",
          "start": 1377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000689390.1:n.1378C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832144"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1267,
          "referenceAllele": "C",
          "start": 1266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000693031.1:c.1129C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509845.1:p.Pro377Ala",
        "hgvsWellDefined": "ENSP00000509845.1:p.Pro377Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834028"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1137,
          "endIntronDirection": "-",
          "endIntronOffset": 24,
          "referenceAllele": "C",
          "start": 1137,
          "startIntronDirection": "-",
          "startIntronOffset": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000693549.1:c.1114-25C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509358.1:n.1114-25C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834302"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1223,
          "referenceAllele": "C",
          "start": 1222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000314589.10:c.1156C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324443.5:p.Pro386Ala",
        "hgvsWellDefined": "ENSP00000324443.5:p.Pro386Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745938"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1356,
          "referenceAllele": "C",
          "start": 1355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000352241.9:c.1222C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295600.8:p.Pro408Ala",
        "hgvsWellDefined": "ENSP00000295600.8:p.Pro408Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748483",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352241.9:c.1222C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001354604.2:c.1222C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295600.8:p.Pro408Ala"
          },
          "RefSeq": {
            "hgvs": "NP_001341533.1:p.Pro408Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1032,
          "referenceAllele": "C",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000394351.9:c.901C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377880.3:p.Pro301Ala",
        "hgvsWellDefined": "ENSP00000377880.3:p.Pro301Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753248",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394351.9:c.901C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000248.4:c.901C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377880.3:p.Pro301Ala"
          },
          "RefSeq": {
            "hgvs": "NP_000239.1:p.Pro301Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1232,
          "referenceAllele": "C",
          "start": 1231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000448226.9:c.1201C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391803.3:p.Pro401Ala",
        "hgvsWellDefined": "ENSP00000391803.3:p.Pro401Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756165"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1320,
          "referenceAllele": "C",
          "start": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000642352.1:c.1204C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494105.1:p.Pro402Ala",
        "hgvsWellDefined": "ENSP00000494105.1:p.Pro402Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766693"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1019,
          "referenceAllele": "C",
          "start": 1018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000314557.10:c.883C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324246.6:p.Pro295Ala",
        "hgvsWellDefined": "ENSP00000324246.6:p.Pro295Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256974"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1235,
          "referenceAllele": "C",
          "start": 1234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000314589.9:c.1156C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324443.5:p.Pro386Ala",
        "hgvsWellDefined": "ENSP00000324443.5:p.Pro386Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256980"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1232,
          "referenceAllele": "C",
          "start": 1231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000328528.10:c.1201C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327867.6:p.Pro401Ala",
        "hgvsWellDefined": "ENSP00000327867.6:p.Pro401Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258925"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1367,
          "referenceAllele": "C",
          "start": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000352241.8:c.1204C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295600.7:p.Pro402Ala",
        "hgvsWellDefined": "ENSP00000295600.7:p.Pro402Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262847"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1021,
          "referenceAllele": "C",
          "start": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000394351.7:c.901C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377880.3:p.Pro301Ala",
        "hgvsWellDefined": "ENSP00000377880.3:p.Pro301Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276136"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1349,
          "referenceAllele": "C",
          "start": 1348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000448226.6:c.1222C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000391803.2:p.Pro408Ala",
        "hgvsWellDefined": "ENSP00000391803.2:p.Pro408Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299629"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1237,
          "referenceAllele": "C",
          "start": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000472437.5:c.1048C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418845.1:p.Pro350Ala",
        "hgvsWellDefined": "ENSP00000418845.1:p.Pro350Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS314406"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 961,
          "referenceAllele": "C",
          "start": 960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000478490.5:c.*548C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433487.1:n.*548C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319090"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 715,
          "referenceAllele": "C",
          "start": 714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "ENST00000531774.1:c.715C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435909.1:p.Pro239Ala",
        "hgvsWellDefined": "ENSP00000435909.1:p.Pro239Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356810"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645448954",
      "coordinates": [
        {
          "allele": "G",
          "end": 1024,
          "referenceAllele": "C",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_000248.3:c.901C>G",
        "LRG_776t1:c.901C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000239.1:p.Pro301Ala",
        "hgvsWellDefined": "NP_000239.1:p.Pro301Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006310"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826151474",
      "coordinates": [
        {
          "allele": "G",
          "end": 1237,
          "referenceAllele": "C",
          "start": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001184967.1:c.1048C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171896.1:p.Pro350Ala",
        "hgvsWellDefined": "NP_001171896.1:p.Pro350Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016055"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829651378",
      "coordinates": [
        {
          "allele": "G",
          "end": 1232,
          "referenceAllele": "C",
          "start": 1231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_006722.2:c.1201C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_006713.1:p.Pro401Ala",
        "hgvsWellDefined": "NP_006713.1:p.Pro401Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031711"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830431414",
      "coordinates": [
        {
          "allele": "G",
          "end": 1006,
          "referenceAllele": "C",
          "start": 1005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198158.2:c.883C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_937801.1:p.Pro295Ala",
        "hgvsWellDefined": "NP_937801.1:p.Pro295Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044446"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830432010",
      "coordinates": [
        {
          "allele": "G",
          "end": 1367,
          "referenceAllele": "C",
          "start": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198159.2:c.1204C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_937802.1:p.Pro402Ala",
        "hgvsWellDefined": "NP_937802.1:p.Pro402Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044447"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830433071",
      "coordinates": [
        {
          "allele": "G",
          "end": 1223,
          "referenceAllele": "C",
          "start": 1222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198177.2:c.1156C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_937820.1:p.Pro386Ala",
        "hgvsWellDefined": "NP_937820.1:p.Pro386Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044451"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830433567",
      "coordinates": [
        {
          "allele": "G",
          "end": 838,
          "referenceAllele": "C",
          "start": 837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198178.2:c.715C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_937821.2:p.Pro239Ala",
        "hgvsWellDefined": "NP_937821.2:p.Pro239Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044452"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1357,
          "referenceAllele": "C",
          "start": 1356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_005264754.1:c.1222C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264811.1:p.Pro408Ala",
        "hgvsWellDefined": "XP_005264811.1:p.Pro408Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064358"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1236,
          "referenceAllele": "C",
          "start": 1235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_005264755.2:c.1174C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264812.1:p.Pro392Ala",
        "hgvsWellDefined": "XP_005264812.1:p.Pro392Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064359"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1377,
          "referenceAllele": "C",
          "start": 1376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_006713164.2:c.1066C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713227.1:p.Pro356Ala",
        "hgvsWellDefined": "XP_006713227.1:p.Pro356Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070030"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1360,
          "referenceAllele": "C",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_011533722.1:c.1219C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532024.1:p.Pro407Ala",
        "hgvsWellDefined": "XP_011532024.1:p.Pro407Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100743"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1223,
          "referenceAllele": "C",
          "start": 1222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_011533723.1:c.1171C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532025.1:p.Pro391Ala",
        "hgvsWellDefined": "XP_011532025.1:p.Pro391Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100744"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1250,
          "referenceAllele": "C",
          "start": 1249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_011533724.1:c.1066C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532026.1:p.Pro356Ala",
        "hgvsWellDefined": "XP_011532026.1:p.Pro356Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100745"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1217,
          "referenceAllele": "C",
          "start": 1216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_011533725.1:c.1054C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532027.1:p.Pro352Ala",
        "hgvsWellDefined": "XP_011532027.1:p.Pro352Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100746"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1199,
          "referenceAllele": "C",
          "start": 1198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "XM_011533726.1:c.1036C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532028.1:p.Pro346Ala",
        "hgvsWellDefined": "XP_011532028.1:p.Pro346Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100747"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916038038",
      "coordinates": [
        {
          "allele": "G",
          "end": 1385,
          "referenceAllele": "C",
          "start": 1384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354604.1:c.1222C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341533.1:p.Pro408Ala",
        "hgvsWellDefined": "NP_001341533.1:p.Pro408Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522548"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827881706",
      "coordinates": [
        {
          "allele": "G",
          "end": 1382,
          "referenceAllele": "C",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354605.1:c.1219C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341534.1:p.Pro407Ala",
        "hgvsWellDefined": "NP_001341534.1:p.Pro407Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522549"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827882074",
      "coordinates": [
        {
          "allele": "G",
          "end": 1364,
          "referenceAllele": "C",
          "start": 1363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354606.1:c.1201C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341535.1:p.Pro401Ala",
        "hgvsWellDefined": "NP_001341535.1:p.Pro401Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522550"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827882442",
      "coordinates": [
        {
          "allele": "G",
          "end": 1496,
          "referenceAllele": "C",
          "start": 1495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354607.1:c.1153C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341536.1:p.Pro385Ala",
        "hgvsWellDefined": "NP_001341536.1:p.Pro385Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522551"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827882788",
      "coordinates": [
        {
          "allele": "G",
          "end": 1406,
          "referenceAllele": "C",
          "start": 1405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354608.1:c.1048C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341537.1:p.Pro350Ala",
        "hgvsWellDefined": "NP_001341537.1:p.Pro350Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522552"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826151474",
      "coordinates": [
        {
          "allele": "G",
          "end": 1289,
          "referenceAllele": "C",
          "start": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001184967.2:c.1048C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171896.1:p.Pro350Ala",
        "hgvsWellDefined": "NP_001171896.1:p.Pro350Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916038038",
      "coordinates": [
        {
          "allele": "G",
          "end": 1356,
          "referenceAllele": "C",
          "start": 1355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354604.2:c.1222C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341533.1:p.Pro408Ala",
        "hgvsWellDefined": "NP_001341533.1:p.Pro408Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690248",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000352241.9:c.1222C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001354604.2:c.1222C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295600.8:p.Pro408Ala"
          },
          "RefSeq": {
            "hgvs": "NP_001341533.1:p.Pro408Ala"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827881706",
      "coordinates": [
        {
          "allele": "G",
          "end": 1353,
          "referenceAllele": "C",
          "start": 1352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354605.2:c.1219C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341534.1:p.Pro407Ala",
        "hgvsWellDefined": "NP_001341534.1:p.Pro407Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690249"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827882074",
      "coordinates": [
        {
          "allele": "G",
          "end": 1335,
          "referenceAllele": "C",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354606.2:c.1201C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341535.1:p.Pro401Ala",
        "hgvsWellDefined": "NP_001341535.1:p.Pro401Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690250"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827882442",
      "coordinates": [
        {
          "allele": "G",
          "end": 1467,
          "referenceAllele": "C",
          "start": 1466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354607.2:c.1153C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341536.1:p.Pro385Ala",
        "hgvsWellDefined": "NP_001341536.1:p.Pro385Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690251"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827882788",
      "coordinates": [
        {
          "allele": "G",
          "end": 1377,
          "referenceAllele": "C",
          "start": 1376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_001354608.2:c.1048C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341537.1:p.Pro350Ala",
        "hgvsWellDefined": "NP_001341537.1:p.Pro350Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690252"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830431414",
      "coordinates": [
        {
          "allele": "G",
          "end": 1014,
          "referenceAllele": "C",
          "start": 1013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198158.3:c.883C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_937801.1:p.Pro295Ala",
        "hgvsWellDefined": "NP_937801.1:p.Pro295Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701263"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830432010",
      "coordinates": [
        {
          "allele": "G",
          "end": 1338,
          "referenceAllele": "C",
          "start": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198159.3:c.1204C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_937802.1:p.Pro402Ala",
        "hgvsWellDefined": "NP_937802.1:p.Pro402Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701264"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830433071",
      "coordinates": [
        {
          "allele": "G",
          "end": 1223,
          "referenceAllele": "C",
          "start": 1222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198177.3:c.1156C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_937820.1:p.Pro386Ala",
        "hgvsWellDefined": "NP_937820.1:p.Pro386Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701267"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830433567",
      "coordinates": [
        {
          "allele": "G",
          "end": 846,
          "referenceAllele": "C",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_198178.3:c.715C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_937821.2:p.Pro239Ala",
        "hgvsWellDefined": "NP_937821.2:p.Pro239Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701268"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645448954",
      "coordinates": [
        {
          "allele": "G",
          "end": 1032,
          "referenceAllele": "C",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_000248.4:c.901C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000239.1:p.Pro301Ala",
        "hgvsWellDefined": "NP_000239.1:p.Pro301Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710814",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394351.9:c.901C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000248.4:c.901C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377880.3:p.Pro301Ala"
          },
          "RefSeq": {
            "hgvs": "NP_000239.1:p.Pro301Ala"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829651378",
      "coordinates": [
        {
          "allele": "G",
          "end": 1232,
          "referenceAllele": "C",
          "start": 1231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NM_006722.3:c.1201C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_006713.1:p.Pro401Ala",
        "hgvsWellDefined": "NP_006713.1:p.Pro401Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727772"
    }
  ],
  "type": "nucleotide"
}