{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA235870",
  "communityStandardTitle": [
    "NM_020297.4(ABCC9):c.2815C>T (p.Arg939Trp)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2005379",
        "active": true,
        "id": "COSM2005379"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=2005380",
        "active": true,
        "id": "COSM2005380"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=188839[alleleid]",
        "alleleId": 188839,
        "preferredName": "NM_020297.4(ABCC9):c.2815C>T (p.Arg939Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/191033",
        "RCV": [
          "RCV000171208",
          "RCV003619654"
        ],
        "variationId": 191033
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-22001135-G-A",
        "id": "12-22001135-G-A",
        "variant": "12:22001135 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.22001135G>A?assembly=hg19",
        "id": "chr12:g.22001135G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.21848201G>A?assembly=hg38",
        "id": "chr12:g.21848201G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/373890183",
        "rs": 373890183
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-22001135-G-A?dataset=gnomad_r2_1",
        "id": "12-22001135-G-A",
        "variant": "12:22001135 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-21848201-G-A?dataset=gnomad_r3",
        "id": "12-21848201-G-A",
        "variant": "12:21848201 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-21848201-G-A?dataset=gnomad_r4",
        "id": "12-21848201-G-A",
        "variant": "12:21848201 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 21848201,
          "referenceAllele": "G",
          "start": 21848200
        }
      ],
      "hgvs": [
        "NC_000012.12:g.21848201G>A",
        "CM000674.2:g.21848201G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 22001135,
          "referenceAllele": "G",
          "start": 22001134
        }
      ],
      "hgvs": [
        "NC_000012.11:g.22001135G>A",
        "CM000674.1:g.22001135G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 21892402,
          "referenceAllele": "G",
          "start": 21892401
        }
      ],
      "hgvs": [
        "NC_000012.10:g.21892402G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 93494,
          "referenceAllele": "C",
          "start": 93493
        }
      ],
      "hgvs": [
        "NG_012819.1:g.93494C>T",
        "LRG_377:g.93494C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002552"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3178,
          "referenceAllele": "C",
          "start": 3177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000261201.10:c.2815C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261201.4:p.Arg939Trp",
        "hgvsWellDefined": "ENSP00000261201.4:p.Arg939Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823620"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3235,
          "referenceAllele": "C",
          "start": 3234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000682068.1:c.2815C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507226.1:p.Arg939Trp",
        "hgvsWellDefined": "ENSP00000507226.1:p.Arg939Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827066"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 392,
          "referenceAllele": "C",
          "start": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000682426.1:n.392C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827417"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2762,
          "referenceAllele": "C",
          "start": 2761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000682879.1:c.*1913C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508210.1:n.*1913C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827867"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3066,
          "referenceAllele": "C",
          "start": 3065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000683105.1:c.2815C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506801.1:p.Arg939Trp",
        "hgvsWellDefined": "ENSP00000506801.1:p.Arg939Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828090"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3179,
          "referenceAllele": "C",
          "start": 3178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000683676.1:c.2815C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508167.1:p.Arg939Trp",
        "hgvsWellDefined": "ENSP00000508167.1:p.Arg939Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828647"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2316,
          "referenceAllele": "C",
          "start": 2315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000683811.1:n.2316C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828780"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3015,
          "referenceAllele": "C",
          "start": 3014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000684084.1:c.2764C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507859.1:p.Arg922Trp",
        "hgvsWellDefined": "ENSP00000507859.1:p.Arg922Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829043"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3178,
          "referenceAllele": "C",
          "start": 3177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000261200.9:c.2815C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261200.4:p.Arg939Trp",
        "hgvsWellDefined": "ENSP00000261200.4:p.Arg939Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742097",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261200.9:c.2815C>T"
          },
          "RefSeq": {
            "hgvs": "NM_020297.4:c.2815C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261200.4:p.Arg939Trp"
          },
          "RefSeq": {
            "hgvs": "NP_064693.2:p.Arg939Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2815,
          "referenceAllele": "C",
          "start": 2814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000261201.9:c.2815C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261201.4:p.Arg939Trp",
        "hgvsWellDefined": "ENSP00000261201.4:p.Arg939Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742098"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2815,
          "referenceAllele": "C",
          "start": 2814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000261200.8:c.2815C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261200.4:p.Arg939Trp",
        "hgvsWellDefined": "ENSP00000261200.4:p.Arg939Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250683"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2815,
          "referenceAllele": "C",
          "start": 2814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000261201.8:c.2815C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261201.4:p.Arg939Trp",
        "hgvsWellDefined": "ENSP00000261201.4:p.Arg939Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250684"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1696,
          "referenceAllele": "C",
          "start": 1695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000544039.5:c.1696C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440521.1:p.Arg566Trp",
        "hgvsWellDefined": "ENSP00000440521.1:p.Arg566Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364354"
    },
    {
      "@id": "http://reg.genome.network/allele/PA235873",
      "coordinates": [
        {
          "allele": "T",
          "end": 2835,
          "referenceAllele": "C",
          "start": 2834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "NM_005691.3:c.2815C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005682.2:p.Arg939Trp",
        "hgvsWellDefined": "NP_005682.2:p.Arg939Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030775"
    },
    {
      "@id": "http://reg.genome.network/allele/PA235874",
      "coordinates": [
        {
          "allele": "T",
          "end": 2835,
          "referenceAllele": "C",
          "start": 2834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "NM_020297.3:c.2815C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_064693.2:p.Arg939Trp",
        "hgvsWellDefined": "NP_064693.2:p.Arg939Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036297"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3615,
          "referenceAllele": "C",
          "start": 3614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253284.2:c.2815C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253341.1:p.Arg939Trp",
        "hgvsWellDefined": "XP_005253341.1:p.Arg939Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060234"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3675,
          "referenceAllele": "C",
          "start": 3674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253286.2:c.2815C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253343.1:p.Arg939Trp",
        "hgvsWellDefined": "XP_005253343.1:p.Arg939Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060235"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3615,
          "referenceAllele": "C",
          "start": 3614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253287.3:c.2815C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253344.1:p.Arg939Trp",
        "hgvsWellDefined": "XP_005253344.1:p.Arg939Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060236"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3499,
          "referenceAllele": "C",
          "start": 3498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253288.2:c.2815C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253345.1:p.Arg939Trp",
        "hgvsWellDefined": "XP_005253345.1:p.Arg939Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060237"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3576,
          "referenceAllele": "C",
          "start": 3575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253289.2:c.2776C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253346.1:p.Arg926Trp",
        "hgvsWellDefined": "XP_005253346.1:p.Arg926Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060238"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3474,
          "referenceAllele": "C",
          "start": 3473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253290.2:c.2674C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253347.1:p.Arg892Trp",
        "hgvsWellDefined": "XP_005253347.1:p.Arg892Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060239"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3576,
          "referenceAllele": "C",
          "start": 3575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_006719025.2:c.2776C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719088.1:p.Arg926Trp",
        "hgvsWellDefined": "XP_006719088.1:p.Arg926Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072890"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3671,
          "referenceAllele": "C",
          "start": 3670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_011520545.1:c.2815C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518847.1:p.Arg939Trp",
        "hgvsWellDefined": "XP_011518847.1:p.Arg939Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087712"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3615,
          "referenceAllele": "C",
          "start": 3614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253284.4:c.2815C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253341.1:p.Arg939Trp",
        "hgvsWellDefined": "XP_005253341.1:p.Arg939Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533934"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3235,
          "referenceAllele": "C",
          "start": 3234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253286.4:c.2815C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253343.1:p.Arg939Trp",
        "hgvsWellDefined": "XP_005253343.1:p.Arg939Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533935"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3066,
          "referenceAllele": "C",
          "start": 3065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253287.5:c.2815C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253344.1:p.Arg939Trp",
        "hgvsWellDefined": "XP_005253344.1:p.Arg939Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533936"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3499,
          "referenceAllele": "C",
          "start": 3498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253288.4:c.2815C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253345.1:p.Arg939Trp",
        "hgvsWellDefined": "XP_005253345.1:p.Arg939Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533937"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3576,
          "referenceAllele": "C",
          "start": 3575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253289.4:c.2776C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253346.1:p.Arg926Trp",
        "hgvsWellDefined": "XP_005253346.1:p.Arg926Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533938"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3474,
          "referenceAllele": "C",
          "start": 3473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253290.4:c.2674C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253347.1:p.Arg892Trp",
        "hgvsWellDefined": "XP_005253347.1:p.Arg892Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533939"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3576,
          "referenceAllele": "C",
          "start": 3575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_006719025.4:c.2776C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719088.1:p.Arg926Trp",
        "hgvsWellDefined": "XP_006719088.1:p.Arg926Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539759"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3671,
          "referenceAllele": "C",
          "start": 3670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_011520545.3:c.2815C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518847.1:p.Arg939Trp",
        "hgvsWellDefined": "XP_011518847.1:p.Arg939Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545776"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828705285",
      "coordinates": [
        {
          "allele": "T",
          "end": 3238,
          "referenceAllele": "C",
          "start": 3237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "NM_001377273.1:c.2815C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364202.1:p.Arg939Trp",
        "hgvsWellDefined": "NP_001364202.1:p.Arg939Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828706046",
      "coordinates": [
        {
          "allele": "T",
          "end": 2765,
          "referenceAllele": "C",
          "start": 2764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "NM_001377274.1:c.1948C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364203.1:p.Arg650Trp",
        "hgvsWellDefined": "NP_001364203.1:p.Arg650Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA235873",
      "coordinates": [
        {
          "allele": "T",
          "end": 3178,
          "referenceAllele": "C",
          "start": 3177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "NM_005691.4:c.2815C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005682.2:p.Arg939Trp",
        "hgvsWellDefined": "NP_005682.2:p.Arg939Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727660"
    },
    {
      "@id": "http://reg.genome.network/allele/PA235874",
      "coordinates": [
        {
          "allele": "T",
          "end": 3178,
          "referenceAllele": "C",
          "start": 3177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "NM_020297.4:c.2815C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_064693.2:p.Arg939Trp",
        "hgvsWellDefined": "NP_064693.2:p.Arg939Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728424",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261200.9:c.2815C>T"
          },
          "RefSeq": {
            "hgvs": "NM_020297.4:c.2815C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261200.4:p.Arg939Trp"
          },
          "RefSeq": {
            "hgvs": "NP_064693.2:p.Arg939Trp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}