{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1969334075",
  "communityStandardTitle": [
    "NM_000256.3(MYBPC3):c.3614G= (p.Arg1205=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/730880596",
        "rs": 730880596
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 47332579,
          "referenceAllele": "C",
          "start": 47332578
        }
      ],
      "hgvs": [
        "NC_000011.10:g.47332579C=",
        "CM000673.2:g.47332579C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 47354130,
          "referenceAllele": "C",
          "start": 47354129
        }
      ],
      "hgvs": [
        "NC_000011.9:g.47354130C=",
        "CM000673.1:g.47354130C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 47310706,
          "referenceAllele": "C",
          "start": 47310705
        }
      ],
      "hgvs": [
        "NC_000011.8:g.47310706C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 25124,
          "referenceAllele": "G",
          "start": 25123
        }
      ],
      "hgvs": [
        "NG_007667.1:g.25124G=",
        "LRG_386:g.25124G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000670"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3669,
          "referenceAllele": "G",
          "start": 3668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "ENST00000545968.6:c.3614G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442795.1:p.Arg1205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759826",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000545968.6:c.3614G="
          },
          "RefSeq": {
            "hgvs": "NM_000256.3:c.3614G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000442795.1:p.Arg1205="
          },
          "RefSeq": {
            "hgvs": "NP_000247.2:p.Arg1205="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3669,
          "referenceAllele": "G",
          "start": 3668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "ENST00000256993.8:c.3614G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256993.5:p.Arg1205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247153"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3669,
          "referenceAllele": "G",
          "start": 3668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "ENST00000399249.6:c.3614G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382193.2:p.Arg1205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246628"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3669,
          "referenceAllele": "G",
          "start": 3668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "ENST00000545968.5:c.3614G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442795.1:p.Arg1205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825082002",
      "coordinates": [
        {
          "allele": "G",
          "end": 3669,
          "referenceAllele": "G",
          "start": 3668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "NM_000256.3:c.3614G=",
        "LRG_386t1:c.3614G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000247.2:p.Arg1205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006318",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000545968.6:c.3614G="
          },
          "RefSeq": {
            "hgvs": "NM_000256.3:c.3614G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000442795.1:p.Arg1205="
          },
          "RefSeq": {
            "hgvs": "NP_000247.2:p.Arg1205="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3651,
          "referenceAllele": "G",
          "start": 3650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "XM_011520117.1:c.3596G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518419.1:p.Arg1199="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087286"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3588,
          "referenceAllele": "G",
          "start": 3587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "XM_011520118.1:c.3533G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011518420.1:p.Arg1178="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087287"
    }
  ],
  "type": "nucleotide"
}