{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2021334266",
  "communityStandardTitle": [
    "NM_020297.4(ABCC9):c.878T= (p.Phe293=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516044",
        "rs": 1057516044
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 21913005,
          "referenceAllele": "A",
          "start": 21913004
        }
      ],
      "hgvs": [
        "NC_000012.12:g.21913005A=",
        "CM000674.2:g.21913005A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 22065939,
          "referenceAllele": "A",
          "start": 22065938
        }
      ],
      "hgvs": [
        "NC_000012.11:g.22065939A=",
        "CM000674.1:g.22065939A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 21957206,
          "referenceAllele": "A",
          "start": 21957205
        }
      ],
      "hgvs": [
        "NC_000012.10:g.21957206A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 28690,
          "referenceAllele": "T",
          "start": 28689
        }
      ],
      "hgvs": [
        "NG_012819.1:g.28690T=",
        "LRG_377:g.28690T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002552"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1241,
          "referenceAllele": "T",
          "start": 1240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000261201.10:c.878T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261201.4:p.Phe293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823620"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1298,
          "referenceAllele": "T",
          "start": 1297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000682068.1:c.878T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507226.1:p.Phe293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827066"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1129,
          "referenceAllele": "T",
          "start": 1128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000682789.1:n.1129T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827778"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 828,
          "referenceAllele": "T",
          "start": 827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000682879.1:c.468T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508210.1:p.Phe156="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827867"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1129,
          "referenceAllele": "T",
          "start": 1128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000683105.1:c.878T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506801.1:p.Phe293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828090"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1242,
          "referenceAllele": "T",
          "start": 1241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000683676.1:c.878T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508167.1:p.Phe293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828647"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1129,
          "referenceAllele": "T",
          "start": 1128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000684084.1:c.878T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507859.1:p.Phe293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829043"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1223,
          "referenceAllele": "T",
          "start": 1222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000684543.1:n.1223T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829496"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1241,
          "referenceAllele": "T",
          "start": 1240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000261200.9:c.878T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261200.4:p.Phe293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742097",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261200.9:c.878T="
          },
          "RefSeq": {
            "hgvs": "NM_020297.4:c.878T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261200.4:p.Phe293="
          },
          "RefSeq": {
            "hgvs": "NP_064693.2:p.Phe293="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 878,
          "referenceAllele": "T",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000261201.9:c.878T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261201.4:p.Phe293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742098"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 878,
          "referenceAllele": "T",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000261200.8:c.878T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261200.4:p.Phe293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250683"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 878,
          "referenceAllele": "T",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "ENST00000261201.8:c.878T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261201.4:p.Phe293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250684"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079807222",
      "coordinates": [
        {
          "allele": "T",
          "end": 898,
          "referenceAllele": "T",
          "start": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "NM_005691.3:c.878T="
      ],
      "proteinEffect": {
        "hgvs": "NP_005682.2:p.Phe293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030775"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 898,
          "referenceAllele": "T",
          "start": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "NM_020297.3:c.878T="
      ],
      "proteinEffect": {
        "hgvs": "NP_064693.2:p.Phe293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036297"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1678,
          "referenceAllele": "T",
          "start": 1677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253284.2:c.878T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005253341.1:p.Phe293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060234"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1738,
          "referenceAllele": "T",
          "start": 1737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253286.2:c.878T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005253343.1:p.Phe293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060235"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1678,
          "referenceAllele": "T",
          "start": 1677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253287.3:c.878T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005253344.1:p.Phe293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060236"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1562,
          "referenceAllele": "T",
          "start": 1561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253288.2:c.878T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005253345.1:p.Phe293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060237"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1678,
          "referenceAllele": "T",
          "start": 1677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253289.2:c.878T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005253346.1:p.Phe293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060238"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1678,
          "referenceAllele": "T",
          "start": 1677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253290.2:c.878T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005253347.1:p.Phe293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060239"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1678,
          "referenceAllele": "T",
          "start": 1677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_006719025.2:c.878T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006719088.1:p.Phe293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072890"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1734,
          "referenceAllele": "T",
          "start": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_011520545.1:c.878T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518847.1:p.Phe293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087712"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1678,
          "referenceAllele": "T",
          "start": 1677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253284.4:c.878T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005253341.1:p.Phe293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533934"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1298,
          "referenceAllele": "T",
          "start": 1297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253286.4:c.878T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005253343.1:p.Phe293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533935"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1129,
          "referenceAllele": "T",
          "start": 1128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253287.5:c.878T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005253344.1:p.Phe293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533936"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1562,
          "referenceAllele": "T",
          "start": 1561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253288.4:c.878T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005253345.1:p.Phe293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533937"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1678,
          "referenceAllele": "T",
          "start": 1677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253289.4:c.878T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005253346.1:p.Phe293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533938"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1678,
          "referenceAllele": "T",
          "start": 1677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_005253290.4:c.878T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005253347.1:p.Phe293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533939"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1678,
          "referenceAllele": "T",
          "start": 1677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_006719025.4:c.878T="
      ],
      "proteinEffect": {
        "hgvs": "XP_006719088.1:p.Phe293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539759"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1734,
          "referenceAllele": "T",
          "start": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "XM_011520545.3:c.878T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518847.1:p.Phe293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545776"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1301,
          "referenceAllele": "T",
          "start": 1300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "NM_001377273.1:c.878T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001364202.1:p.Phe293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695059"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 831,
          "referenceAllele": "T",
          "start": 830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "NM_001377274.1:c.14T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001364203.1:p.Phe5="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079807222",
      "coordinates": [
        {
          "allele": "T",
          "end": 1241,
          "referenceAllele": "T",
          "start": 1240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "NM_005691.4:c.878T="
      ],
      "proteinEffect": {
        "hgvs": "NP_005682.2:p.Phe293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727660"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1241,
          "referenceAllele": "T",
          "start": 1240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000060",
      "geneNCBI_id": 10060,
      "geneSymbol": "ABCC9",
      "hgvs": [
        "NM_020297.4:c.878T="
      ],
      "proteinEffect": {
        "hgvs": "NP_064693.2:p.Phe293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728424",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261200.9:c.878T="
          },
          "RefSeq": {
            "hgvs": "NM_020297.4:c.878T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261200.4:p.Phe293="
          },
          "RefSeq": {
            "hgvs": "NP_064693.2:p.Phe293="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}