{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1141581387",
  "communityStandardTitle": [
    "NM_000228.3(LAMB3):c.619A= (p.Lys207=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912487",
        "rs": 121912487
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 209633079,
          "referenceAllele": "T",
          "start": 209633078
        }
      ],
      "hgvs": [
        "NC_000001.11:g.209633079T=",
        "CM000663.2:g.209633079T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 209806424,
          "referenceAllele": "T",
          "start": 209806423
        }
      ],
      "hgvs": [
        "NC_000001.10:g.209806424T=",
        "CM000663.1:g.209806424T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 207873047,
          "referenceAllele": "T",
          "start": 207873046
        }
      ],
      "hgvs": [
        "NC_000001.9:g.207873047T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 24397,
          "referenceAllele": "A",
          "start": 24396
        }
      ],
      "hgvs": [
        "NG_007116.1:g.24397A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000490"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 713,
          "referenceAllele": "A",
          "start": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "ENST00000356082.9:c.619A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348384.3:p.Lys207="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748745",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356082.9:c.619A="
          },
          "RefSeq": {
            "hgvs": "NM_000228.3:c.619A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348384.3:p.Lys207="
          },
          "RefSeq": {
            "hgvs": "NP_000219.2:p.Lys207="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 754,
          "referenceAllele": "A",
          "start": 753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "ENST00000356082.8:c.619A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348384.3:p.Lys207="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263639"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 737,
          "referenceAllele": "A",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "ENST00000367030.7:c.619A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355997.3:p.Lys207="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266160"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1009,
          "referenceAllele": "A",
          "start": 1008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "ENST00000391911.5:c.619A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375778.1:p.Lys207="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274821"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063916259",
      "coordinates": [
        {
          "allele": "A",
          "end": 763,
          "referenceAllele": "A",
          "start": 762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "NM_000228.2:c.619A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000219.2:p.Lys207="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006291"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1009,
          "referenceAllele": "A",
          "start": 1008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "NM_001017402.1:c.619A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001017402.1:p.Lys207="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008570"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 737,
          "referenceAllele": "A",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "NM_001127641.1:c.619A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001121113.1:p.Lys207="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011655"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 941,
          "referenceAllele": "A",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "XM_005273124.3:c.619A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005273181.1:p.Lys207="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067455"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 945,
          "referenceAllele": "A",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "XM_005273124.4:c.619A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005273181.1:p.Lys207="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537386"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 563,
          "referenceAllele": "A",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "XM_017001272.2:c.427A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016856761.1:p.Lys143="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557479"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063916259",
      "coordinates": [
        {
          "allele": "A",
          "end": 713,
          "referenceAllele": "A",
          "start": 712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "NM_000228.3:c.619A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000219.2:p.Lys207="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356082.9:c.619A="
          },
          "RefSeq": {
            "hgvs": "NM_000228.3:c.619A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348384.3:p.Lys207="
          },
          "RefSeq": {
            "hgvs": "NP_000219.2:p.Lys207="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1049,
          "referenceAllele": "A",
          "start": 1048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006490",
      "geneNCBI_id": 3914,
      "geneSymbol": "LAMB3",
      "hgvs": [
        "NM_001017402.2:c.619A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001017402.1:p.Lys207="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711378"
    }
  ],
  "type": "nucleotide"
}