{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA384141001",
  "communityStandardTitle": [
    "NM_020297.4(ABCC9):c.3346C>G (p.Arg1116Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1709753[alleleid]",
        "alleleId": 1709753,
        "preferredName": "NM_020297.4(ABCC9):c.3346C>G (p.Arg1116Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1711337",
        "RCV": [
          "RCV002292853"
        ],
        "variationId": 1711337
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.21995375G>C?assembly=hg19",
        "id": "chr12:g.21995375G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.21842441G>C?assembly=hg38",
        "id": "chr12:g.21842441G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/387907228",
        "rs": 387907228
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 21842441,
          "referenceAllele": "G",
          "start": 21842440
        }
      ],
      "hgvs": [
        "NC_000012.12:g.21842441G>C",
        "CM000674.2:g.21842441G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 21995375,
          "referenceAllele": "G",
          "start": 21995374
        }
      ],
      "hgvs": [
        "NC_000012.11:g.21995375G>C",
        "CM000674.1:g.21995375G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "C",
          "end": 21886642,
          "referenceAllele": "G",
          "start": 21886641
        }
      ],
      "hgvs": [
        "NC_000012.10:g.21886642G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 99254,
          "referenceAllele": "C",
          "start": 99253
        }
      ],
      "hgvs": [
        "NG_012819.1:g.99254C>G",
        "LRG_377:g.99254C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002552"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3709,
          "referenceAllele": "C",
          "start": 3708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000261201.10:c.3346C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261201.4:p.Arg1116Gly",
        "hgvsWellDefined": "ENSP00000261201.4:p.Arg1116Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823620"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3766,
          "referenceAllele": "C",
          "start": 3765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000682068.1:c.3346C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507226.1:p.Arg1116Gly",
        "hgvsWellDefined": "ENSP00000507226.1:p.Arg1116Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827066"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 923,
          "referenceAllele": "C",
          "start": 922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000682426.1:n.923C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827417"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3293,
          "referenceAllele": "C",
          "start": 3292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000682879.1:c.*2444C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508210.1:n.*2444C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827867"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3597,
          "referenceAllele": "C",
          "start": 3596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000683105.1:c.3346C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506801.1:p.Arg1116Gly",
        "hgvsWellDefined": "ENSP00000506801.1:p.Arg1116Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828090"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3710,
          "referenceAllele": "C",
          "start": 3709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000683676.1:c.3346C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508167.1:p.Arg1116Gly",
        "hgvsWellDefined": "ENSP00000508167.1:p.Arg1116Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828647"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2847,
          "referenceAllele": "C",
          "start": 2846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000683811.1:n.2847C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828780"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3546,
          "referenceAllele": "C",
          "start": 3545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000684084.1:c.3295C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507859.1:p.Arg1099Gly",
        "hgvsWellDefined": "ENSP00000507859.1:p.Arg1099Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829043"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3709,
          "referenceAllele": "C",
          "start": 3708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000261200.9:c.3346C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261200.4:p.Arg1116Gly",
        "hgvsWellDefined": "ENSP00000261200.4:p.Arg1116Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742097",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261200.9:c.3346C>G"
          },
          "RefSeq": {
            "hgvs": "NM_020297.4:c.3346C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261200.4:p.Arg1116Gly"
          },
          "RefSeq": {
            "hgvs": "NP_064693.2:p.Arg1116Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3346,
          "referenceAllele": "C",
          "start": 3345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000261201.9:c.3346C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261201.4:p.Arg1116Gly",
        "hgvsWellDefined": "ENSP00000261201.4:p.Arg1116Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742098"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3346,
          "referenceAllele": "C",
          "start": 3345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000261200.8:c.3346C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261200.4:p.Arg1116Gly",
        "hgvsWellDefined": "ENSP00000261200.4:p.Arg1116Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250683"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3346,
          "referenceAllele": "C",
          "start": 3345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000261201.8:c.3346C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261201.4:p.Arg1116Gly",
        "hgvsWellDefined": "ENSP00000261201.4:p.Arg1116Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250684"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2227,
          "referenceAllele": "C",
          "start": 2226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000544039.5:c.2227C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440521.1:p.Arg743Gly",
        "hgvsWellDefined": "ENSP00000440521.1:p.Arg743Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364354"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829621654",
      "coordinates": [
        {
          "allele": "G",
          "end": 3366,
          "referenceAllele": "C",
          "start": 3365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "NM_005691.3:c.3346C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005682.2:p.Arg1116Gly",
        "hgvsWellDefined": "NP_005682.2:p.Arg1116Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030775"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829915823",
      "coordinates": [
        {
          "allele": "G",
          "end": 3366,
          "referenceAllele": "C",
          "start": 3365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "NM_020297.3:c.3346C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_064693.2:p.Arg1116Gly",
        "hgvsWellDefined": "NP_064693.2:p.Arg1116Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036297"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4146,
          "referenceAllele": "C",
          "start": 4145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253284.2:c.3346C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253341.1:p.Arg1116Gly",
        "hgvsWellDefined": "XP_005253341.1:p.Arg1116Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060234"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4206,
          "referenceAllele": "C",
          "start": 4205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253286.2:c.3346C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253343.1:p.Arg1116Gly",
        "hgvsWellDefined": "XP_005253343.1:p.Arg1116Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060235"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4146,
          "referenceAllele": "C",
          "start": 4145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253287.3:c.3346C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253344.1:p.Arg1116Gly",
        "hgvsWellDefined": "XP_005253344.1:p.Arg1116Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060236"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4030,
          "referenceAllele": "C",
          "start": 4029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253288.2:c.3346C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253345.1:p.Arg1116Gly",
        "hgvsWellDefined": "XP_005253345.1:p.Arg1116Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060237"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4107,
          "referenceAllele": "C",
          "start": 4106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253289.2:c.3307C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253346.1:p.Arg1103Gly",
        "hgvsWellDefined": "XP_005253346.1:p.Arg1103Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060238"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4005,
          "referenceAllele": "C",
          "start": 4004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253290.2:c.3205C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253347.1:p.Arg1069Gly",
        "hgvsWellDefined": "XP_005253347.1:p.Arg1069Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060239"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4107,
          "referenceAllele": "C",
          "start": 4106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_006719025.2:c.3307C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719088.1:p.Arg1103Gly",
        "hgvsWellDefined": "XP_006719088.1:p.Arg1103Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072890"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4202,
          "referenceAllele": "C",
          "start": 4201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_011520545.1:c.3346C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518847.1:p.Arg1116Gly",
        "hgvsWellDefined": "XP_011518847.1:p.Arg1116Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087712"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4146,
          "referenceAllele": "C",
          "start": 4145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253284.4:c.3346C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253341.1:p.Arg1116Gly",
        "hgvsWellDefined": "XP_005253341.1:p.Arg1116Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533934"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3766,
          "referenceAllele": "C",
          "start": 3765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253286.4:c.3346C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253343.1:p.Arg1116Gly",
        "hgvsWellDefined": "XP_005253343.1:p.Arg1116Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533935"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3597,
          "referenceAllele": "C",
          "start": 3596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253287.5:c.3346C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253344.1:p.Arg1116Gly",
        "hgvsWellDefined": "XP_005253344.1:p.Arg1116Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533936"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4030,
          "referenceAllele": "C",
          "start": 4029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253288.4:c.3346C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253345.1:p.Arg1116Gly",
        "hgvsWellDefined": "XP_005253345.1:p.Arg1116Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533937"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4107,
          "referenceAllele": "C",
          "start": 4106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253289.4:c.3307C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253346.1:p.Arg1103Gly",
        "hgvsWellDefined": "XP_005253346.1:p.Arg1103Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533938"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4005,
          "referenceAllele": "C",
          "start": 4004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253290.4:c.3205C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253347.1:p.Arg1069Gly",
        "hgvsWellDefined": "XP_005253347.1:p.Arg1069Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533939"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4107,
          "referenceAllele": "C",
          "start": 4106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_006719025.4:c.3307C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719088.1:p.Arg1103Gly",
        "hgvsWellDefined": "XP_006719088.1:p.Arg1103Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539759"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4202,
          "referenceAllele": "C",
          "start": 4201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_011520545.3:c.3346C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518847.1:p.Arg1116Gly",
        "hgvsWellDefined": "XP_011518847.1:p.Arg1116Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545776"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828705406",
      "coordinates": [
        {
          "allele": "G",
          "end": 3769,
          "referenceAllele": "C",
          "start": 3768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "NM_001377273.1:c.3346C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364202.1:p.Arg1116Gly",
        "hgvsWellDefined": "NP_001364202.1:p.Arg1116Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580239419",
      "coordinates": [
        {
          "allele": "G",
          "end": 3296,
          "referenceAllele": "C",
          "start": 3295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "NM_001377274.1:c.2479C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364203.1:p.Arg827Gly",
        "hgvsWellDefined": "NP_001364203.1:p.Arg827Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829621654",
      "coordinates": [
        {
          "allele": "G",
          "end": 3709,
          "referenceAllele": "C",
          "start": 3708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "NM_005691.4:c.3346C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005682.2:p.Arg1116Gly",
        "hgvsWellDefined": "NP_005682.2:p.Arg1116Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727660"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829915823",
      "coordinates": [
        {
          "allele": "G",
          "end": 3709,
          "referenceAllele": "C",
          "start": 3708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "NM_020297.4:c.3346C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_064693.2:p.Arg1116Gly",
        "hgvsWellDefined": "NP_064693.2:p.Arg1116Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728424",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261200.9:c.3346C>G"
          },
          "RefSeq": {
            "hgvs": "NM_020297.4:c.3346C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261200.4:p.Arg1116Gly"
          },
          "RefSeq": {
            "hgvs": "NP_064693.2:p.Arg1116Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}