{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10971933",
  "communityStandardTitle": [
    "NC_000001.11:g.156242034T>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.156211825T>C?assembly=hg19",
        "id": "chr1:g.156211825T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.156242034T>C?assembly=hg38",
        "id": "chr1:g.156242034T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1800247",
        "rs": 1800247
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-156211825-T-C?dataset=gnomad_r2_1",
        "id": "1-156211825-T-C",
        "variant": "1:156211825 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-156242034-T-C?dataset=gnomad_r3",
        "id": "1-156242034-T-C",
        "variant": "1:156242034 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-156242034-T-C?dataset=gnomad_r4",
        "id": "1-156242034-T-C",
        "variant": "1:156242034 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 156242034,
          "referenceAllele": "T",
          "start": 156242033
        }
      ],
      "hgvs": [
        "NC_000001.11:g.156242034T>C",
        "CM000663.2:g.156242034T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 156211825,
          "referenceAllele": "T",
          "start": 156211824
        }
      ],
      "hgvs": [
        "NC_000001.10:g.156211825T>C",
        "CM000663.1:g.156211825T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 154478449,
          "referenceAllele": "T",
          "start": 154478448
        }
      ],
      "hgvs": [
        "NC_000001.9:g.154478449T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4875,
          "referenceAllele": "T",
          "start": 4874
        }
      ],
      "hgvs": [
        "NG_047015.1:g.4875T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616549"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 375,
          "endIntronDirection": "-",
          "endIntronOffset": 518,
          "referenceAllele": "T",
          "start": 375,
          "startIntronDirection": "-",
          "startIntronOffset": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN042953",
      "geneNCBI_id": 100527963,
      "geneSymbol": "PMF1-BGLAP",
      "hgvs": [
        "ENST00000320139.5:c.369-519T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000324909.5:n.369-519T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257759"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 73,
          "referenceAllele": "T",
          "start": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001043",
      "geneNCBI_id": 632,
      "geneSymbol": "BGLAP",
      "hgvs": [
        "ENST00000368272.4:c.-198T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357255.4:n.-198T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266876"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 512,
          "endIntronDirection": "-",
          "endIntronOffset": 518,
          "referenceAllele": "T",
          "start": 512,
          "startIntronDirection": "-",
          "startIntronOffset": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN042953",
      "geneNCBI_id": 100527963,
      "geneSymbol": "PMF1-BGLAP",
      "hgvs": [
        "ENST00000368276.8:c.504-519T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357259.4:n.504-519T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266878"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 598,
          "endIntronDirection": "-",
          "endIntronOffset": 518,
          "referenceAllele": "T",
          "start": 598,
          "startIntronDirection": "-",
          "startIntronOffset": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN042953",
      "geneNCBI_id": 100527963,
      "geneSymbol": "PMF1-BGLAP",
      "hgvs": [
        "ENST00000490491.5:c.565-519T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475561.1:n.565-519T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS328300"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 364,
          "endIntronDirection": "-",
          "endIntronOffset": 518,
          "referenceAllele": "T",
          "start": 364,
          "startIntronDirection": "-",
          "startIntronOffset": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN042953",
      "geneNCBI_id": 100527963,
      "geneSymbol": "PMF1-BGLAP",
      "hgvs": [
        "ENST00000567140.3:c.358-519T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458021.2:n.358-519T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379919"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 531,
          "endIntronDirection": "-",
          "endIntronOffset": 518,
          "referenceAllele": "T",
          "start": 531,
          "startIntronDirection": "-",
          "startIntronOffset": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN042953",
      "geneNCBI_id": 100527963,
      "geneSymbol": "PMF1-BGLAP",
      "hgvs": [
        "NM_001199661.1:c.504-519T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186590.1:n.504-519T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017156"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 592,
          "endIntronDirection": "-",
          "endIntronOffset": 518,
          "referenceAllele": "T",
          "start": 592,
          "startIntronDirection": "-",
          "startIntronOffset": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN042953",
      "geneNCBI_id": 100527963,
      "geneSymbol": "PMF1-BGLAP",
      "hgvs": [
        "NM_001199662.1:c.565-519T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186591.1:n.565-519T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017157"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 396,
          "endIntronDirection": "-",
          "endIntronOffset": 518,
          "referenceAllele": "T",
          "start": 396,
          "startIntronDirection": "-",
          "startIntronOffset": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN042953",
      "geneNCBI_id": 100527963,
      "geneSymbol": "PMF1-BGLAP",
      "hgvs": [
        "NM_001199663.1:c.369-519T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186592.1:n.369-519T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017158"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 385,
          "endIntronDirection": "-",
          "endIntronOffset": 518,
          "referenceAllele": "T",
          "start": 385,
          "startIntronDirection": "-",
          "startIntronOffset": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN042953",
      "geneNCBI_id": 100527963,
      "geneSymbol": "PMF1-BGLAP",
      "hgvs": [
        "NM_001199664.1:c.358-519T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186593.1:n.358-519T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017159"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 73,
          "referenceAllele": "T",
          "start": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001043",
      "geneNCBI_id": 632,
      "geneSymbol": "BGLAP",
      "hgvs": [
        "NM_199173.5:c.-198T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_954642.1:n.-198T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044857"
    }
  ],
  "type": "nucleotide"
}