{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA278636341",
  "communityStandardTitle": [
    "NM_001171.6(ABCC6):c.2820T>A (p.Arg940=)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.16263678A>T?assembly=hg19",
        "id": "chr16:g.16263678A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.16169821A>T?assembly=hg38",
        "id": "chr16:g.16169821A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/72664286",
        "rs": 72664286
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 16169821,
          "referenceAllele": "A",
          "start": 16169820
        }
      ],
      "hgvs": [
        "NC_000016.10:g.16169821A>T",
        "CM000678.2:g.16169821A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 16263678,
          "referenceAllele": "A",
          "start": 16263677
        }
      ],
      "hgvs": [
        "NC_000016.9:g.16263678A>T",
        "CM000678.1:g.16263678A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 16171179,
          "referenceAllele": "A",
          "start": 16171178
        }
      ],
      "hgvs": [
        "NC_000016.8:g.16171179A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 58651,
          "referenceAllele": "T",
          "start": 58650
        }
      ],
      "hgvs": [
        "NG_007558.2:g.58651T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000648"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 58797,
          "referenceAllele": "T",
          "start": 58796
        }
      ],
      "hgvs": [
        "NG_007558.3:g.58797T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733313"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2880,
          "referenceAllele": "T",
          "start": 2879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000622290.5:c.2820T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483331.2:p.Arg940="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826576"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2880,
          "referenceAllele": "T",
          "start": 2879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000205557.12:c.2820T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000205557.7:p.Arg940="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740175",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000205557.12:c.2820T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001171.6:c.2820T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000205557.7:p.Arg940="
          },
          "RefSeq": {
            "hgvs": "NP_001162.5:p.Arg940="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2850,
          "referenceAllele": "T",
          "start": 2849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000205557.11:c.2820T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000205557.7:p.Arg940="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247821"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2645,
          "referenceAllele": "T",
          "start": 2644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000456970.6:c.2645T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405002.2:n.2645T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303727"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2682,
          "referenceAllele": "T",
          "start": 2681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000622290.4:c.*29T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483331.1:n.*29T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405655"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2857,
          "referenceAllele": "T",
          "start": 2856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001171.5:c.2820T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001162.4:p.Arg940="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015270"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3017,
          "referenceAllele": "T",
          "start": 3016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522479.1:c.2787T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520781.1:p.Arg929="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089630"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2805,
          "referenceAllele": "T",
          "start": 2804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522480.1:c.2478T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520782.1:p.Arg826="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2990,
          "referenceAllele": "T",
          "start": 2989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522481.1:c.2478T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520783.1:p.Arg826="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089632"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3055,
          "referenceAllele": "T",
          "start": 3054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932836.1:n.3055T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128735"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3056,
          "referenceAllele": "T",
          "start": 3055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932837.1:n.3056T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128736"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3056,
          "referenceAllele": "T",
          "start": 3055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932838.1:n.3056T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128737"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827627321",
      "coordinates": [
        {
          "allele": "A",
          "end": 2888,
          "referenceAllele": "T",
          "start": 2887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001351800.1:c.2478T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338729.1:p.Arg826="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520461"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2682,
          "referenceAllele": "T",
          "start": 2681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NR_147784.1:n.2682T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530836"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2968,
          "referenceAllele": "T",
          "start": 2967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522479.2:c.2787T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520781.1:p.Arg929="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546607"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3003,
          "referenceAllele": "T",
          "start": 3002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522481.3:c.2478T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520783.1:p.Arg826="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546608"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2833,
          "referenceAllele": "T",
          "start": 2832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_017023212.1:c.2652T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878701.1:p.Arg884="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3002,
          "referenceAllele": "T",
          "start": 3001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_017023214.1:c.2820T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878703.1:p.Arg940="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3039,
          "referenceAllele": "T",
          "start": 3038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_024450261.1:c.2856T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306029.1:p.Arg952="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583801"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3001,
          "referenceAllele": "T",
          "start": 3000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932836.2:n.3001T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610311"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3001,
          "referenceAllele": "T",
          "start": 3000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932837.3:n.3001T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610312"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3001,
          "referenceAllele": "T",
          "start": 3000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932838.3:n.3001T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610313"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826010653",
      "coordinates": [
        {
          "allele": "A",
          "end": 2880,
          "referenceAllele": "T",
          "start": 2879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001171.6:c.2820T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001162.5:p.Arg940="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713353",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000205557.12:c.2820T>A"
          },
          "RefSeq": {
            "hgvs": "NM_001171.6:c.2820T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000205557.7:p.Arg940="
          },
          "RefSeq": {
            "hgvs": "NP_001162.5:p.Arg940="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}