{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2575099780",
  "communityStandardTitle": [
    "NM_020297.4(ABCC9):c.1455+19A>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1895896[alleleid]",
        "alleleId": 1895896,
        "preferredName": "NM_020297.4(ABCC9):c.1455+19A>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2168348",
        "RCV": [
          "RCV003092878"
        ],
        "variationId": 2168348
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2541646592",
        "rs": 2541646592
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 21908058,
          "referenceAllele": "T",
          "start": 21908057
        }
      ],
      "hgvs": [
        "NC_000012.12:g.21908058T>G",
        "CM000674.2:g.21908058T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 22060992,
          "referenceAllele": "T",
          "start": 22060991
        }
      ],
      "hgvs": [
        "NC_000012.11:g.22060992T>G",
        "CM000674.1:g.22060992T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 21952259,
          "referenceAllele": "T",
          "start": 21952258
        }
      ],
      "hgvs": [
        "NC_000012.10:g.21952259T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 33637,
          "referenceAllele": "A",
          "start": 33636
        }
      ],
      "hgvs": [
        "NG_012819.1:g.33637A>C",
        "LRG_377:g.33637A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002552"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1818,
          "endIntronDirection": "+",
          "endIntronOffset": 19,
          "referenceAllele": "A",
          "start": 1818,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000261201.10:c.1455+19A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261201.4:n.1455+19A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823620"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1875,
          "endIntronDirection": "+",
          "endIntronOffset": 19,
          "referenceAllele": "A",
          "start": 1875,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000682068.1:c.1455+19A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507226.1:n.1455+19A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827066"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1706,
          "endIntronDirection": "+",
          "endIntronOffset": 19,
          "referenceAllele": "A",
          "start": 1706,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000682789.1:n.1706+19A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827778"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1405,
          "endIntronDirection": "+",
          "endIntronOffset": 19,
          "referenceAllele": "A",
          "start": 1405,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000682879.1:c.*556+19A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508210.1:n.*556+19A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827867"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1706,
          "endIntronDirection": "+",
          "endIntronOffset": 19,
          "referenceAllele": "A",
          "start": 1706,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000683105.1:c.1455+19A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506801.1:n.1455+19A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828090"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1819,
          "endIntronDirection": "+",
          "endIntronOffset": 19,
          "referenceAllele": "A",
          "start": 1819,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000683676.1:c.1455+19A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508167.1:n.1455+19A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828647"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1706,
          "endIntronDirection": "+",
          "endIntronOffset": 19,
          "referenceAllele": "A",
          "start": 1706,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000684084.1:c.1455+19A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507859.1:n.1455+19A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829043"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1800,
          "endIntronDirection": "+",
          "endIntronOffset": 19,
          "referenceAllele": "A",
          "start": 1800,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000684543.1:n.1800+19A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829496"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1818,
          "endIntronDirection": "+",
          "endIntronOffset": 19,
          "referenceAllele": "A",
          "start": 1818,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000261200.9:c.1455+19A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261200.4:n.1455+19A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742097",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261200.9:c.1455+19A>C"
          },
          "RefSeq": {
            "hgvs": "NM_020297.4:c.1455+19A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261200.4:n.1455+19A>C"
          },
          "RefSeq": {
            "hgvs": "NP_064693.2:n.1455+19A>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1455,
          "endIntronDirection": "+",
          "endIntronOffset": 19,
          "referenceAllele": "A",
          "start": 1455,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000261201.9:c.1455+19A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261201.4:n.1455+19A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742098"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1455,
          "endIntronDirection": "+",
          "endIntronOffset": 19,
          "referenceAllele": "A",
          "start": 1455,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000261200.8:c.1455+19A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261200.4:n.1455+19A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250683"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1455,
          "endIntronDirection": "+",
          "endIntronOffset": 19,
          "referenceAllele": "A",
          "start": 1455,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000261201.8:c.1455+19A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261201.4:n.1455+19A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250684"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 444,
          "endIntronDirection": "+",
          "endIntronOffset": 19,
          "referenceAllele": "A",
          "start": 444,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000544039.5:c.444+19A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440521.1:n.444+19A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364354"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1475,
          "endIntronDirection": "+",
          "endIntronOffset": 19,
          "referenceAllele": "A",
          "start": 1475,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "NM_005691.3:c.1455+19A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005682.2:n.1455+19A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030775"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1475,
          "endIntronDirection": "+",
          "endIntronOffset": 19,
          "referenceAllele": "A",
          "start": 1475,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "NM_020297.3:c.1455+19A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_064693.2:n.1455+19A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036297"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2255,
          "endIntronDirection": "+",
          "endIntronOffset": 19,
          "referenceAllele": "A",
          "start": 2255,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253284.2:c.1455+19A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253341.1:n.1455+19A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060234"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2315,
          "endIntronDirection": "+",
          "endIntronOffset": 19,
          "referenceAllele": "A",
          "start": 2315,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253286.2:c.1455+19A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253343.1:n.1455+19A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060235"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2255,
          "endIntronDirection": "+",
          "endIntronOffset": 19,
          "referenceAllele": "A",
          "start": 2255,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253287.3:c.1455+19A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253344.1:n.1455+19A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060236"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2139,
          "endIntronDirection": "+",
          "endIntronOffset": 19,
          "referenceAllele": "A",
          "start": 2139,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253288.2:c.1455+19A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253345.1:n.1455+19A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060237"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2255,
          "endIntronDirection": "+",
          "endIntronOffset": 19,
          "referenceAllele": "A",
          "start": 2255,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253289.2:c.1455+19A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253346.1:n.1455+19A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060238"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2255,
          "endIntronDirection": "+",
          "endIntronOffset": 19,
          "referenceAllele": "A",
          "start": 2255,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253290.2:c.1455+19A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253347.1:n.1455+19A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060239"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2255,
          "endIntronDirection": "+",
          "endIntronOffset": 19,
          "referenceAllele": "A",
          "start": 2255,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_006719025.2:c.1455+19A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719088.1:n.1455+19A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072890"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2311,
          "endIntronDirection": "+",
          "endIntronOffset": 19,
          "referenceAllele": "A",
          "start": 2311,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_011520545.1:c.1455+19A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518847.1:n.1455+19A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087712"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2255,
          "endIntronDirection": "+",
          "endIntronOffset": 19,
          "referenceAllele": "A",
          "start": 2255,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253284.4:c.1455+19A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253341.1:n.1455+19A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533934"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1875,
          "endIntronDirection": "+",
          "endIntronOffset": 19,
          "referenceAllele": "A",
          "start": 1875,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253286.4:c.1455+19A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253343.1:n.1455+19A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533935"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1706,
          "endIntronDirection": "+",
          "endIntronOffset": 19,
          "referenceAllele": "A",
          "start": 1706,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253287.5:c.1455+19A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253344.1:n.1455+19A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533936"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2139,
          "endIntronDirection": "+",
          "endIntronOffset": 19,
          "referenceAllele": "A",
          "start": 2139,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253288.4:c.1455+19A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253345.1:n.1455+19A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533937"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2255,
          "endIntronDirection": "+",
          "endIntronOffset": 19,
          "referenceAllele": "A",
          "start": 2255,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253289.4:c.1455+19A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253346.1:n.1455+19A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533938"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2255,
          "endIntronDirection": "+",
          "endIntronOffset": 19,
          "referenceAllele": "A",
          "start": 2255,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253290.4:c.1455+19A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253347.1:n.1455+19A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533939"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2255,
          "endIntronDirection": "+",
          "endIntronOffset": 19,
          "referenceAllele": "A",
          "start": 2255,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_006719025.4:c.1455+19A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719088.1:n.1455+19A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539759"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2311,
          "endIntronDirection": "+",
          "endIntronOffset": 19,
          "referenceAllele": "A",
          "start": 2311,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_011520545.3:c.1455+19A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518847.1:n.1455+19A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545776"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1878,
          "endIntronDirection": "+",
          "endIntronOffset": 19,
          "referenceAllele": "A",
          "start": 1878,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "NM_001377273.1:c.1455+19A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364202.1:n.1455+19A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695059"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1408,
          "endIntronDirection": "+",
          "endIntronOffset": 19,
          "referenceAllele": "A",
          "start": 1408,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "NM_001377274.1:c.591+19A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364203.1:n.591+19A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695060"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1818,
          "endIntronDirection": "+",
          "endIntronOffset": 19,
          "referenceAllele": "A",
          "start": 1818,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "NM_005691.4:c.1455+19A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_005682.2:n.1455+19A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727660"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1818,
          "endIntronDirection": "+",
          "endIntronOffset": 19,
          "referenceAllele": "A",
          "start": 1818,
          "startIntronDirection": "+",
          "startIntronOffset": 18
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "NM_020297.4:c.1455+19A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_064693.2:n.1455+19A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728424",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261200.9:c.1455+19A>C"
          },
          "RefSeq": {
            "hgvs": "NM_020297.4:c.1455+19A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261200.4:n.1455+19A>C"
          },
          "RefSeq": {
            "hgvs": "NP_064693.2:n.1455+19A>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}