{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA352508623",
  "communityStandardTitle": [
    "NM_015175.3(NBEAL2):c.1793G>A (p.Trp598Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=428195[alleleid]",
        "alleleId": 428195,
        "preferredName": "NM_015175.3(NBEAL2):c.1793G>A (p.Trp598Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/435927",
        "RCV": [
          "RCV000503824"
        ],
        "variationId": 435927
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.47037018G>A?assembly=hg19",
        "id": "chr3:g.47037018G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.46995528G>A?assembly=hg38",
        "id": "chr3:g.46995528G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1553659758",
        "rs": 1553659758
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 46995528,
          "referenceAllele": "G",
          "start": 46995527
        }
      ],
      "hgvs": [
        "NC_000003.12:g.46995528G>A",
        "CM000665.2:g.46995528G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 47037018,
          "referenceAllele": "G",
          "start": 47037017
        }
      ],
      "hgvs": [
        "NC_000003.11:g.47037018G>A",
        "CM000665.1:g.47037018G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 47012022,
          "referenceAllele": "G",
          "start": 47012021
        }
      ],
      "hgvs": [
        "NC_000003.10:g.47012022G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 20846,
          "referenceAllele": "G",
          "start": 20845
        }
      ],
      "hgvs": [
        "NG_031914.1:g.20846G>A",
        "LRG_568:g.20846G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005025"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1989,
          "referenceAllele": "G",
          "start": 1988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "ENST00000450053.8:c.1793G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415034.2:p.Trp598Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756262",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000450053.8:c.1793G>A"
          },
          "RefSeq": {
            "hgvs": "NM_015175.3:c.1793G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000415034.2:p.Trp598Ter"
          },
          "RefSeq": {
            "hgvs": "NP_055990.1:p.Trp598Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1749,
          "referenceAllele": "G",
          "start": 1748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "ENST00000651747.1:c.1691G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499216.1:p.Trp564Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771835"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 208,
          "referenceAllele": "G",
          "start": 207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "ENST00000416683.5:c.208G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS284567"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1972,
          "referenceAllele": "G",
          "start": 1971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "ENST00000450053.7:c.1793G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415034.2:p.Trp598Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300522"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1972,
          "referenceAllele": "G",
          "start": 1971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "NM_015175.2:c.1793G>A",
        "LRG_568t1:c.1793G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_055990.1:p.Trp598Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033804"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1744,
          "referenceAllele": "G",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "XM_005264992.2:c.1691G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265049.1:p.Trp564Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064461"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1888,
          "referenceAllele": "G",
          "start": 1887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "XM_006713072.2:c.1712G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713135.1:p.Trp571Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069992"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1825,
          "referenceAllele": "G",
          "start": 1824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "XM_011533532.1:c.1772G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531834.1:p.Trp591Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100553"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1969,
          "referenceAllele": "G",
          "start": 1968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "XM_011533533.1:c.1793G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531835.1:p.Trp598Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100554"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1600,
          "referenceAllele": "G",
          "start": 1599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "XM_011533534.1:c.1424G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531836.1:p.Trp475Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100555"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2546,
          "referenceAllele": "G",
          "start": 2545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "XM_011533535.1:c.1253G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531837.1:p.Trp418Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100556"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1758,
          "referenceAllele": "G",
          "start": 1757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "XM_011533536.1:c.1139G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531838.1:p.Trp380Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100557"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 816,
          "referenceAllele": "G",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "XM_011533537.1:c.701G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531839.1:p.Trp234Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100558"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1969,
          "referenceAllele": "G",
          "start": 1968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "XR_940397.1:n.1969G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS135093"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1969,
          "referenceAllele": "G",
          "start": 1968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "XR_940398.1:n.1969G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS135094"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1749,
          "referenceAllele": "G",
          "start": 1748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "NM_001365116.1:c.1691G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352045.1:p.Trp564Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524029"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1888,
          "referenceAllele": "G",
          "start": 1887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "XM_006713072.3:c.1712G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006713135.1:p.Trp571Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538422"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1969,
          "referenceAllele": "G",
          "start": 1968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "XM_011533533.2:c.1793G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531835.1:p.Trp598Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551286"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1969,
          "referenceAllele": "G",
          "start": 1968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "XM_017006010.1:c.1793G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861499.1:p.Trp598Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561134"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1825,
          "referenceAllele": "G",
          "start": 1824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "XM_017006011.1:c.1772G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861500.1:p.Trp591Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561135"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1888,
          "referenceAllele": "G",
          "start": 1887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "XM_017006012.1:c.1712G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861501.1:p.Trp571Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1969,
          "referenceAllele": "G",
          "start": 1968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "XM_017006013.1:c.1793G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861502.1:p.Trp598Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561137"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1744,
          "referenceAllele": "G",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "XM_017006014.1:c.1691G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861503.1:p.Trp564Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561138"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1600,
          "referenceAllele": "G",
          "start": 1599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "XM_017006015.1:c.1424G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861504.1:p.Trp475Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561139"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2546,
          "referenceAllele": "G",
          "start": 2545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "XM_017006016.1:c.1253G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861505.1:p.Trp418Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561140"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1969,
          "referenceAllele": "G",
          "start": 1968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "XR_940397.2:n.1969G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS612634"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1749,
          "referenceAllele": "G",
          "start": 1748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "NM_001365116.2:c.1691G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352045.1:p.Trp564Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690983"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1989,
          "referenceAllele": "G",
          "start": 1988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "NM_015175.3:c.1793G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_055990.1:p.Trp598Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697460",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000450053.8:c.1793G>A"
          },
          "RefSeq": {
            "hgvs": "NM_015175.3:c.1793G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000415034.2:p.Trp598Ter"
          },
          "RefSeq": {
            "hgvs": "NP_055990.1:p.Trp598Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}