{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3071928983",
  "communityStandardTitle": [
    "NM_000228.3(LAMB3):c.1823G= (p.Ser608=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516219",
        "rs": 1057516219
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 209625801,
          "referenceAllele": "C",
          "start": 209625800
        }
      ],
      "hgvs": [
        "NC_000001.11:g.209625801C=",
        "CM000663.2:g.209625801C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 209799146,
          "referenceAllele": "C",
          "start": 209799145
        }
      ],
      "hgvs": [
        "NC_000001.10:g.209799146C=",
        "CM000663.1:g.209799146C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 207865769,
          "referenceAllele": "C",
          "start": 207865768
        }
      ],
      "hgvs": [
        "NC_000001.9:g.207865769C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 31675,
          "referenceAllele": "G",
          "start": 31674
        }
      ],
      "hgvs": [
        "NG_007116.1:g.31675G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000490"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1917,
          "referenceAllele": "G",
          "start": 1916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "ENST00000356082.9:c.1823G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348384.3:p.Ser608="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748745",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356082.9:c.1823G="
          },
          "RefSeq": {
            "hgvs": "NM_000228.3:c.1823G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348384.3:p.Ser608="
          },
          "RefSeq": {
            "hgvs": "NP_000219.2:p.Ser608="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1958,
          "referenceAllele": "G",
          "start": 1957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "ENST00000356082.8:c.1823G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348384.3:p.Ser608="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263639"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1941,
          "referenceAllele": "G",
          "start": 1940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "ENST00000367030.7:c.1823G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355997.3:p.Ser608="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266160"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2213,
          "referenceAllele": "G",
          "start": 2212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "ENST00000391911.5:c.1823G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375778.1:p.Ser608="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274821"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064933575",
      "coordinates": [
        {
          "allele": "G",
          "end": 1967,
          "referenceAllele": "G",
          "start": 1966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "NM_000228.2:c.1823G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000219.2:p.Ser608="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006291"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2213,
          "referenceAllele": "G",
          "start": 2212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "NM_001017402.1:c.1823G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001017402.1:p.Ser608="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008570"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1941,
          "referenceAllele": "G",
          "start": 1940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "NM_001127641.1:c.1823G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121113.1:p.Ser608="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011655"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2145,
          "referenceAllele": "G",
          "start": 2144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "XM_005273124.3:c.1823G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005273181.1:p.Ser608="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067455"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2149,
          "referenceAllele": "G",
          "start": 2148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "XM_005273124.4:c.1823G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005273181.1:p.Ser608="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537386"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1767,
          "referenceAllele": "G",
          "start": 1766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "XM_017001272.2:c.1631G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016856761.1:p.Ser544="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557479"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064933575",
      "coordinates": [
        {
          "allele": "G",
          "end": 1917,
          "referenceAllele": "G",
          "start": 1916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "NM_000228.3:c.1823G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000219.2:p.Ser608="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356082.9:c.1823G="
          },
          "RefSeq": {
            "hgvs": "NM_000228.3:c.1823G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348384.3:p.Ser608="
          },
          "RefSeq": {
            "hgvs": "NP_000219.2:p.Ser608="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2253,
          "referenceAllele": "G",
          "start": 2252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "NM_001017402.2:c.1823G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001017402.1:p.Ser608="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711378"
    }
  ],
  "type": "nucleotide"
}