{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2210138094",
  "communityStandardTitle": [
    "NM_001171.6(ABCC6):c.1553G= (p.Arg518=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/72653772",
        "rs": 72653772
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 16190246,
          "referenceAllele": "C",
          "start": 16190245
        }
      ],
      "hgvs": [
        "NC_000016.10:g.16190246C=",
        "CM000678.2:g.16190246C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 16284103,
          "referenceAllele": "C",
          "start": 16284102
        }
      ],
      "hgvs": [
        "NC_000016.9:g.16284103C=",
        "CM000678.1:g.16284103C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 16191604,
          "referenceAllele": "C",
          "start": 16191603
        }
      ],
      "hgvs": [
        "NC_000016.8:g.16191604C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 38226,
          "referenceAllele": "G",
          "start": 38225
        }
      ],
      "hgvs": [
        "NG_007558.2:g.38226G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000648"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 38372,
          "referenceAllele": "G",
          "start": 38371
        }
      ],
      "hgvs": [
        "NG_007558.3:g.38372G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733313"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1613,
          "referenceAllele": "G",
          "start": 1612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000622290.5:c.1553G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483331.2:p.Arg518="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826576"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1613,
          "referenceAllele": "G",
          "start": 1612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000205557.12:c.1553G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000205557.7:p.Arg518="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740175",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000205557.12:c.1553G="
          },
          "RefSeq": {
            "hgvs": "NM_001171.6:c.1553G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000205557.7:p.Arg518="
          },
          "RefSeq": {
            "hgvs": "NP_001162.5:p.Arg518="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1583,
          "referenceAllele": "G",
          "start": 1582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000205557.11:c.1553G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000205557.7:p.Arg518="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247821"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1553,
          "referenceAllele": "G",
          "start": 1552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000456970.6:c.1553G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405002.2:p.Arg518="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303727"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1649,
          "referenceAllele": "G",
          "start": 1648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000574094.5:n.1649G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383544"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1590,
          "referenceAllele": "G",
          "start": 1589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000622290.4:c.1553G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483331.1:p.Arg518="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405655"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1590,
          "referenceAllele": "G",
          "start": 1589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001171.5:c.1553G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001162.4:p.Arg518="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015270"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1783,
          "referenceAllele": "G",
          "start": 1782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522479.1:c.1553G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520781.1:p.Arg518="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089630"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1538,
          "referenceAllele": "G",
          "start": 1537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522480.1:c.1211G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520782.1:p.Arg404="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089631"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1723,
          "referenceAllele": "G",
          "start": 1722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522481.1:c.1211G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520783.1:p.Arg404="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089632"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1792,
          "referenceAllele": "G",
          "start": 1791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522482.1:c.1553G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520784.1:p.Arg518="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089633"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1788,
          "referenceAllele": "G",
          "start": 1787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932836.1:n.1788G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128735"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1789,
          "referenceAllele": "G",
          "start": 1788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932837.1:n.1789G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128736"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1789,
          "referenceAllele": "G",
          "start": 1788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932838.1:n.1789G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128737"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827626984",
      "coordinates": [
        {
          "allele": "G",
          "end": 1621,
          "referenceAllele": "G",
          "start": 1620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001351800.1:c.1211G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001338729.1:p.Arg404="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520461"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1590,
          "referenceAllele": "G",
          "start": 1589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NR_147784.1:n.1590G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530836"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1734,
          "referenceAllele": "G",
          "start": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522479.2:c.1553G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520781.1:p.Arg518="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546607"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1736,
          "referenceAllele": "G",
          "start": 1735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522481.3:c.1211G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520783.1:p.Arg404="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546608"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1732,
          "referenceAllele": "G",
          "start": 1731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522482.3:c.1553G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520784.1:p.Arg518="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546609"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1734,
          "referenceAllele": "G",
          "start": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_017023212.1:c.1553G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016878701.1:p.Arg518="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1735,
          "referenceAllele": "G",
          "start": 1734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_017023214.1:c.1553G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016878703.1:p.Arg518="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1772,
          "referenceAllele": "G",
          "start": 1771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_024450261.1:c.1589G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024306029.1:p.Arg530="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583801"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1734,
          "referenceAllele": "G",
          "start": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932836.2:n.1734G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610311"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1734,
          "referenceAllele": "G",
          "start": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932837.3:n.1734G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610312"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1734,
          "referenceAllele": "G",
          "start": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932838.3:n.1734G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610313"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826010264",
      "coordinates": [
        {
          "allele": "G",
          "end": 1613,
          "referenceAllele": "G",
          "start": 1612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001171.6:c.1553G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001162.5:p.Arg518="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713353",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000205557.12:c.1553G="
          },
          "RefSeq": {
            "hgvs": "NM_001171.6:c.1553G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000205557.7:p.Arg518="
          },
          "RefSeq": {
            "hgvs": "NP_001162.5:p.Arg518="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}