{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7926582",
  "communityStandardTitle": [
    "NM_001171.6(ABCC6):c.742C>T (p.Leu248Phe)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=265507[alleleid]",
        "alleleId": 265507,
        "preferredName": "NM_001171.6(ABCC6):c.742C>T (p.Leu248Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/281270",
        "RCV": [
          "RCV000300804",
          "RCV000499195",
          "RCV002291274"
        ],
        "variationId": 281270
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-16302637-G-A",
        "id": "16-16302637-G-A",
        "variant": "16:16302637 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.16302637G>A?assembly=hg19",
        "id": "chr16:g.16302637G>A"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.16302637_16302640delinsATTC?assembly=hg19",
        "id": "chr16:g.16302637_16302640delinsATTC"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.16208780G>A?assembly=hg38",
        "id": "chr16:g.16208780G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/72653756",
        "rs": 72653756
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-16302637-G-A?dataset=gnomad_r2_1",
        "id": "16-16302637-G-A",
        "variant": "16:16302637 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-16208780-G-A?dataset=gnomad_r3",
        "id": "16-16208780-G-A",
        "variant": "16:16208780 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-16208780-G-A?dataset=gnomad_r4",
        "id": "16-16208780-G-A",
        "variant": "16:16208780 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 16208780,
          "referenceAllele": "G",
          "start": 16208779
        }
      ],
      "hgvs": [
        "NC_000016.10:g.16208780G>A",
        "CM000678.2:g.16208780G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 16302637,
          "referenceAllele": "G",
          "start": 16302636
        }
      ],
      "hgvs": [
        "NC_000016.9:g.16302637G>A",
        "CM000678.1:g.16302637G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 16210138,
          "referenceAllele": "G",
          "start": 16210137
        }
      ],
      "hgvs": [
        "NC_000016.8:g.16210138G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 19692,
          "referenceAllele": "C",
          "start": 19691
        }
      ],
      "hgvs": [
        "NG_007558.2:g.19692C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000648"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 19838,
          "referenceAllele": "C",
          "start": 19837
        }
      ],
      "hgvs": [
        "NG_007558.3:g.19838C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733313"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 777,
          "referenceAllele": "C",
          "start": 776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000574094.6:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507301.1:p.Leu248Phe",
        "hgvsWellDefined": "ENSP00000507301.1:p.Leu248Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826176"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 802,
          "referenceAllele": "C",
          "start": 801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000622290.5:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483331.2:p.Leu248Phe",
        "hgvsWellDefined": "ENSP00000483331.2:p.Leu248Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826576"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 802,
          "referenceAllele": "C",
          "start": 801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000205557.12:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000205557.7:p.Leu248Phe",
        "hgvsWellDefined": "ENSP00000205557.7:p.Leu248Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740175",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000205557.12:c.742C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001171.6:c.742C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000205557.7:p.Leu248Phe"
          },
          "RefSeq": {
            "hgvs": "NP_001162.5:p.Leu248Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 772,
          "referenceAllele": "C",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000205557.11:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000205557.7:p.Leu248Phe",
        "hgvsWellDefined": "ENSP00000205557.7:p.Leu248Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247821"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 742,
          "referenceAllele": "C",
          "start": 741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000456970.6:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405002.2:p.Leu248Phe",
        "hgvsWellDefined": "ENSP00000405002.2:p.Leu248Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 838,
          "referenceAllele": "C",
          "start": 837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000574094.5:n.838C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383544"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 946,
          "referenceAllele": "C",
          "start": 945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000577103.1:c.*609C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459243.1:n.*609C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384719"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 779,
          "referenceAllele": "C",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "ENST00000622290.4:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483331.1:p.Leu248Phe",
        "hgvsWellDefined": "ENSP00000483331.1:p.Leu248Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405655"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645442522",
      "coordinates": [
        {
          "allele": "T",
          "end": 779,
          "referenceAllele": "C",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001171.5:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001162.4:p.Leu248Phe",
        "hgvsWellDefined": "NP_001162.4:p.Leu248Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015270"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 972,
          "referenceAllele": "C",
          "start": 971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522479.1:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520781.1:p.Leu248Phe",
        "hgvsWellDefined": "XP_011520781.1:p.Leu248Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089630"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 727,
          "referenceAllele": "C",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522480.1:c.400C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520782.1:p.Leu134Phe",
        "hgvsWellDefined": "XP_011520782.1:p.Leu134Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089631"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 912,
          "referenceAllele": "C",
          "start": 911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522481.1:c.400C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520783.1:p.Leu134Phe",
        "hgvsWellDefined": "XP_011520783.1:p.Leu134Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089632"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 981,
          "referenceAllele": "C",
          "start": 980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522482.1:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520784.1:p.Leu248Phe",
        "hgvsWellDefined": "XP_011520784.1:p.Leu248Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089633"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 977,
          "referenceAllele": "C",
          "start": 976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932836.1:n.977C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128735"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 978,
          "referenceAllele": "C",
          "start": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932837.1:n.978C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128736"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 978,
          "referenceAllele": "C",
          "start": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932838.1:n.978C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128737"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 96,
          "endIntronDirection": "-",
          "endIntronOffset": 73,
          "referenceAllele": "G",
          "start": 96,
          "startIntronDirection": "-",
          "startIntronOffset": 74
        }
      ],
      "hgvs": [
        "XR_933131.1:n.97-74G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128908"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 96,
          "endIntronDirection": "-",
          "endIntronOffset": 73,
          "referenceAllele": "G",
          "start": 96,
          "startIntronDirection": "-",
          "startIntronOffset": 74
        }
      ],
      "hgvs": [
        "XR_933132.1:n.97-74G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128909"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827626824",
      "coordinates": [
        {
          "allele": "T",
          "end": 810,
          "referenceAllele": "C",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001351800.1:c.400C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001338729.1:p.Leu134Phe",
        "hgvsWellDefined": "NP_001338729.1:p.Leu134Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520461"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 779,
          "referenceAllele": "C",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NR_147784.1:n.779C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530836"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 923,
          "referenceAllele": "C",
          "start": 922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522479.2:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520781.1:p.Leu248Phe",
        "hgvsWellDefined": "XP_011520781.1:p.Leu248Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546607"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 925,
          "referenceAllele": "C",
          "start": 924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522481.3:c.400C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520783.1:p.Leu134Phe",
        "hgvsWellDefined": "XP_011520783.1:p.Leu134Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546608"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 921,
          "referenceAllele": "C",
          "start": 920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_011522482.3:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520784.1:p.Leu248Phe",
        "hgvsWellDefined": "XP_011520784.1:p.Leu248Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546609"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 923,
          "referenceAllele": "C",
          "start": 922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_017023212.1:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878701.1:p.Leu248Phe",
        "hgvsWellDefined": "XP_016878701.1:p.Leu248Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 924,
          "referenceAllele": "C",
          "start": 923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_017023214.1:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878703.1:p.Leu248Phe",
        "hgvsWellDefined": "XP_016878703.1:p.Leu248Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 961,
          "referenceAllele": "C",
          "start": 960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XM_024450261.1:c.778C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306029.1:p.Leu260Phe",
        "hgvsWellDefined": "XP_024306029.1:p.Leu260Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583801"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 104,
          "endIntronDirection": "-",
          "endIntronOffset": 73,
          "referenceAllele": "G",
          "start": 104,
          "startIntronDirection": "-",
          "startIntronOffset": 74
        }
      ],
      "hgvs": [
        "XR_001752340.1:n.105-74G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599064"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 104,
          "endIntronDirection": "-",
          "endIntronOffset": 73,
          "referenceAllele": "G",
          "start": 104,
          "startIntronDirection": "-",
          "startIntronOffset": 74
        }
      ],
      "hgvs": [
        "XR_001752341.1:n.105-74G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599065"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 104,
          "endIntronDirection": "-",
          "endIntronOffset": 73,
          "referenceAllele": "G",
          "start": 104,
          "startIntronDirection": "-",
          "startIntronOffset": 74
        }
      ],
      "hgvs": [
        "XR_001752342.1:n.105-74G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599066"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 923,
          "referenceAllele": "C",
          "start": 922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932836.2:n.923C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610311"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 923,
          "referenceAllele": "C",
          "start": 922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932837.3:n.923C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610312"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 923,
          "referenceAllele": "C",
          "start": 922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "XR_932838.3:n.923C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610313"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 104,
          "endIntronDirection": "-",
          "endIntronOffset": 73,
          "referenceAllele": "G",
          "start": 104,
          "startIntronDirection": "-",
          "startIntronOffset": 74
        }
      ],
      "hgvs": [
        "XR_933131.2:n.105-74G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610381"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 104,
          "endIntronDirection": "-",
          "endIntronOffset": 73,
          "referenceAllele": "G",
          "start": 104,
          "startIntronDirection": "-",
          "startIntronOffset": 74
        }
      ],
      "hgvs": [
        "XR_933132.2:n.105-74G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610382"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573066512",
      "coordinates": [
        {
          "allele": "T",
          "end": 802,
          "referenceAllele": "C",
          "start": 801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001171.6:c.742C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001162.5:p.Leu248Phe",
        "hgvsWellDefined": "NP_001162.5:p.Leu248Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713353",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000205557.12:c.742C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001171.6:c.742C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000205557.7:p.Leu248Phe"
          },
          "RefSeq": {
            "hgvs": "NP_001162.5:p.Leu248Phe"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}