{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2262606011",
  "communityStandardTitle": [
    "NM_000212.3(ITGB3):c.719G= (p.Arg240=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121918444",
        "rs": 121918444
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 47286364,
          "referenceAllele": "G",
          "start": 47286363
        }
      ],
      "hgvs": [
        "NC_000017.11:g.47286364G=",
        "CM000679.2:g.47286364G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 45363730,
          "referenceAllele": "G",
          "start": 45363729
        }
      ],
      "hgvs": [
        "NC_000017.10:g.45363730G=",
        "CM000679.1:g.45363730G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 42718729,
          "referenceAllele": "G",
          "start": 42718728
        }
      ],
      "hgvs": [
        "NC_000017.9:g.42718729G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 37523,
          "referenceAllele": "G",
          "start": 37522
        }
      ],
      "hgvs": [
        "NG_008332.2:g.37523G=",
        "LRG_481:g.37523G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001033"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 754,
          "referenceAllele": "G",
          "start": 753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "ENST00000696963.1:c.719G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513002.1:p.Arg240="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908395"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 754,
          "referenceAllele": "G",
          "start": 753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "ENST00000559488.7:c.719G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452786.2:p.Arg240="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760268",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000559488.7:c.719G="
          },
          "RefSeq": {
            "hgvs": "NM_000212.3:c.719G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000452786.2:p.Arg240="
          },
          "RefSeq": {
            "hgvs": "NP_000203.2:p.Arg240="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 735,
          "referenceAllele": "G",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "ENST00000559488.5:c.719G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452786.1:p.Arg240="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374624"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 684,
          "referenceAllele": "G",
          "start": 683
        }
      ],
      "hgvs": [
        "ENST00000560629.1:c.684G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375491"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 728,
          "referenceAllele": "G",
          "start": 727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "ENST00000571680.1:c.719G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461626.1:p.Arg240="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382603"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083973765",
      "coordinates": [
        {
          "allele": "G",
          "end": 739,
          "referenceAllele": "G",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "NM_000212.2:c.719G=",
        "LRG_481t1:c.719G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000203.2:p.Arg240="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006276"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083973765",
      "coordinates": [
        {
          "allele": "G",
          "end": 754,
          "referenceAllele": "G",
          "start": 753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "NM_000212.3:c.719G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000203.2:p.Arg240="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674746",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000559488.7:c.719G="
          },
          "RefSeq": {
            "hgvs": "NM_000212.3:c.719G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000452786.2:p.Arg240="
          },
          "RefSeq": {
            "hgvs": "NP_000203.2:p.Arg240="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}