{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2210140867",
  "communityStandardTitle": [
    "NM_001171.6(ABCC6):c.4015C= (p.Arg1339=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28939702",
        "rs": 28939702
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 16154899,
          "referenceAllele": "G",
          "start": 16154898
        }
      ],
      "hgvs": [
        "NC_000016.10:g.16154899G=",
        "CM000678.2:g.16154899G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 16248756,
          "referenceAllele": "G",
          "start": 16248755
        }
      ],
      "hgvs": [
        "NC_000016.9:g.16248756G=",
        "CM000678.1:g.16248756G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 16156257,
          "referenceAllele": "G",
          "start": 16156256
        }
      ],
      "hgvs": [
        "NC_000016.8:g.16156257G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 73573,
          "referenceAllele": "C",
          "start": 73572
        }
      ],
      "hgvs": [
        "NG_007558.2:g.73573C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000648"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 73719,
          "referenceAllele": "C",
          "start": 73718
        }
      ],
      "hgvs": [
        "NG_007558.3:g.73719C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733313"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 878,
          "referenceAllele": "C",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000576204.6:n.878C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826186"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4138,
          "referenceAllele": "C",
          "start": 4137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000622290.5:c.*187C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483331.2:n.*187C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826576"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4075,
          "referenceAllele": "C",
          "start": 4074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000205557.12:c.4015C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000205557.7:p.Arg1339="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740175",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000205557.12:c.4015C="
          },
          "RefSeq": {
            "hgvs": "NM_001171.6:c.4015C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000205557.7:p.Arg1339="
          },
          "RefSeq": {
            "hgvs": "NP_001162.5:p.Arg1339="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 829,
          "referenceAllele": "C",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000640696.1:c.829C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492197.1:p.Arg277="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765624"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4045,
          "referenceAllele": "C",
          "start": 4044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000205557.11:c.4015C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000205557.7:p.Arg1339="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247821"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3640,
          "referenceAllele": "C",
          "start": 3639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000456970.6:c.3640C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405002.2:n.3640C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303727"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 878,
          "referenceAllele": "C",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000576204.5:n.878C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384394"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3877,
          "referenceAllele": "C",
          "start": 3876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000622290.4:c.*1224C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483331.1:n.*1224C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405655"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4052,
          "referenceAllele": "C",
          "start": 4051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001171.5:c.4015C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001162.4:p.Arg1339="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015270"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4212,
          "referenceAllele": "C",
          "start": 4211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522479.1:c.3982C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520781.1:p.Arg1328="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089630"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4000,
          "referenceAllele": "C",
          "start": 3999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522480.1:c.3673C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520782.1:p.Arg1225="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089631"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4185,
          "referenceAllele": "C",
          "start": 4184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522481.1:c.3673C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520783.1:p.Arg1225="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089632"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 538,
          "endIntronDirection": "-",
          "endIntronOffset": 4881,
          "referenceAllele": "G",
          "start": 538,
          "startIntronDirection": "-",
          "startIntronOffset": 4882
        }
      ],
      "hgvs": [
        "XR_933134.1:n.539-4882G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128911"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827627615",
      "coordinates": [
        {
          "allele": "C",
          "end": 4083,
          "referenceAllele": "C",
          "start": 4082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001351800.1:c.3673C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001338729.1:p.Arg1225="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520461"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3677,
          "referenceAllele": "C",
          "start": 3676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NR_147784.1:n.3677C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530836"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4163,
          "referenceAllele": "C",
          "start": 4162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522479.2:c.3982C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520781.1:p.Arg1328="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546607"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4198,
          "referenceAllele": "C",
          "start": 4197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522481.3:c.3673C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520783.1:p.Arg1225="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546608"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4028,
          "referenceAllele": "C",
          "start": 4027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_017023212.1:c.3847C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016878701.1:p.Arg1283="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574012"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4234,
          "referenceAllele": "C",
          "start": 4233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_024450261.1:c.4051C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024306029.1:p.Arg1351="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583801"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826011040",
      "coordinates": [
        {
          "allele": "C",
          "end": 4075,
          "referenceAllele": "C",
          "start": 4074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001171.6:c.4015C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001162.5:p.Arg1339="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713353",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000205557.12:c.4015C="
          },
          "RefSeq": {
            "hgvs": "NM_001171.6:c.4015C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000205557.7:p.Arg1339="
          },
          "RefSeq": {
            "hgvs": "NP_001162.5:p.Arg1339="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}