{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2493488928",
  "communityStandardTitle": [
    "NM_000384.3(APOB):c.631C= (p.Gln211=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/143301836",
        "rs": 143301836
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 21037162,
          "referenceAllele": "G",
          "start": 21037161
        }
      ],
      "hgvs": [
        "NC_000002.12:g.21037162G=",
        "CM000664.2:g.21037162G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 21260034,
          "referenceAllele": "G",
          "start": 21260033
        }
      ],
      "hgvs": [
        "NC_000002.11:g.21260034G=",
        "CM000664.1:g.21260034G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 21113539,
          "referenceAllele": "G",
          "start": 21113538
        }
      ],
      "hgvs": [
        "NC_000002.10:g.21113539G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 11912,
          "referenceAllele": "C",
          "start": 11911
        }
      ],
      "hgvs": [
        "NG_011793.1:g.11912C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001975"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 605,
          "referenceAllele": "C",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000603",
      "geneNCBI_id": 338,
      "geneSymbol": "APOB",
      "hgvs": [
        "ENST00000673739.2:c.477C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501110.2:p.Gly159="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914448"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 605,
          "referenceAllele": "C",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000603",
      "geneNCBI_id": 338,
      "geneSymbol": "APOB",
      "hgvs": [
        "ENST00000673882.2:c.477C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501253.2:p.Gly159="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914450"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 345,
          "referenceAllele": "C",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000603",
      "geneNCBI_id": 338,
      "geneSymbol": "APOB",
      "hgvs": [
        "ENST00000673739.1:c.345C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501110.1:p.Gly115="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773831"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 345,
          "referenceAllele": "C",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000603",
      "geneNCBI_id": 338,
      "geneSymbol": "APOB",
      "hgvs": [
        "ENST00000673882.1:c.345C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501253.1:p.Gly115="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773940"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 759,
          "referenceAllele": "C",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000603",
      "geneNCBI_id": 338,
      "geneSymbol": "APOB",
      "hgvs": [
        "ENST00000233242.5:c.631C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000233242.1:p.Gln211="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247308",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000233242.5:c.631C="
          },
          "RefSeq": {
            "hgvs": "NM_000384.3:c.631C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000233242.1:p.Gln211="
          },
          "RefSeq": {
            "hgvs": "NP_000375.3:p.Gln211="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 648,
          "referenceAllele": "C",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000603",
      "geneNCBI_id": 338,
      "geneSymbol": "APOB",
      "hgvs": [
        "ENST00000399256.4:c.631C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382200.4:p.Gln211="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247135"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 631,
          "referenceAllele": "C",
          "start": 630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000603",
      "geneNCBI_id": 338,
      "geneSymbol": "APOB",
      "hgvs": [
        "ENST00000616098.4:c.631C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477990.1:p.Gln211="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402913"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 759,
          "referenceAllele": "C",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000603",
      "geneNCBI_id": 338,
      "geneSymbol": "APOB",
      "hgvs": [
        "NM_000384.2:c.631C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000375.2:p.Gln211="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006446"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 759,
          "referenceAllele": "C",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000603",
      "geneNCBI_id": 338,
      "geneSymbol": "APOB",
      "hgvs": [
        "XM_011532809.1:c.631C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531111.1:p.Gln211="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099835"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066544238",
      "coordinates": [
        {
          "allele": "C",
          "end": 759,
          "referenceAllele": "C",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000603",
      "geneNCBI_id": 338,
      "geneSymbol": "APOB",
      "hgvs": [
        "NM_000384.3:c.631C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000375.3:p.Gln211="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674822",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000233242.5:c.631C="
          },
          "RefSeq": {
            "hgvs": "NM_000384.3:c.631C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000233242.1:p.Gln211="
          },
          "RefSeq": {
            "hgvs": "NP_000375.3:p.Gln211="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}