{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1397870830",
  "communityStandardTitle": [
    "NM_000388.4(CASR):c.1750A= (p.Lys584=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057523748",
        "rs": 1057523748
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 122283704,
          "referenceAllele": "A",
          "start": 122283703
        }
      ],
      "hgvs": [
        "NC_000003.12:g.122283704A=",
        "CM000665.2:g.122283704A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 122002551,
          "referenceAllele": "A",
          "start": 122002550
        }
      ],
      "hgvs": [
        "NC_000003.11:g.122002551A=",
        "CM000665.1:g.122002551A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 123485241,
          "referenceAllele": "A",
          "start": 123485240
        }
      ],
      "hgvs": [
        "NC_000003.10:g.123485241A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 105022,
          "referenceAllele": "A",
          "start": 105021
        }
      ],
      "hgvs": [
        "NG_009058.1:g.105022A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001400"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 105037,
          "referenceAllele": "A",
          "start": 105036
        }
      ],
      "hgvs": [
        "NG_009058.2:g.105037A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706091"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1761,
          "referenceAllele": "A",
          "start": 1760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "ENST00000490131.7:c.1519A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418685.2:p.Lys507="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757629"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2218,
          "referenceAllele": "A",
          "start": 2217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "ENST00000498619.4:c.1780A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420194.1:p.Lys594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757906"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2289,
          "referenceAllele": "A",
          "start": 2288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "ENST00000638421.1:c.1750A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492190.1:p.Lys584="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764520"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2137,
          "referenceAllele": "A",
          "start": 2136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "ENST00000639785.2:c.1750A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491584.2:p.Lys584="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765173",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000639785.2:c.1750A="
          },
          "RefSeq": {
            "hgvs": "NM_000388.4:c.1750A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000491584.2:p.Lys584="
          },
          "RefSeq": {
            "hgvs": "NP_000379.3:p.Lys584="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2122,
          "referenceAllele": "A",
          "start": 2121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "ENST00000490131.5:c.1750A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418685.1:p.Lys584="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS328037"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2218,
          "referenceAllele": "A",
          "start": 2217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "ENST00000498619.2:c.1780A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420194.1:p.Lys594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS334587"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2122,
          "referenceAllele": "A",
          "start": 2121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "NM_000388.3:c.1750A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000379.2:p.Lys584="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006449"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2218,
          "referenceAllele": "A",
          "start": 2217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "NM_001178065.1:c.1780A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171536.1:p.Lys594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015837"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2356,
          "referenceAllele": "A",
          "start": 2355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "XM_005247836.2:c.1750A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005247893.1:p.Lys584="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058208"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1352,
          "referenceAllele": "A",
          "start": 1351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "XM_005247837.2:c.1267A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005247894.1:p.Lys423="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058209"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2207,
          "referenceAllele": "A",
          "start": 2206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "XM_006713789.2:c.1750A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006713852.1:p.Lys584="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070360"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4227,
          "referenceAllele": "A",
          "start": 4226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "XM_011513237.1:c.1750A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011511539.1:p.Lys584="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080490"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4158,
          "referenceAllele": "A",
          "start": 4157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "XM_011513238.1:c.1750A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011511540.1:p.Lys584="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080491"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1345,
          "referenceAllele": "A",
          "start": 1344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "XM_011513239.1:c.1162A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011511541.1:p.Lys388="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080492"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2703,
          "referenceAllele": "A",
          "start": 2702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "XM_006713789.3:c.1750A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006713852.1:p.Lys584="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538582"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4068,
          "referenceAllele": "A",
          "start": 4067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "XM_017007324.1:c.1750A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016862813.1:p.Lys584="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562107"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2094,
          "referenceAllele": "A",
          "start": 2093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "XM_017007325.1:c.1750A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016862814.1:p.Lys584="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562108"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825152689",
      "coordinates": [
        {
          "allele": "A",
          "end": 2137,
          "referenceAllele": "A",
          "start": 2136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "NM_000388.4:c.1750A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000379.3:p.Lys584="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674823",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000639785.2:c.1750A="
          },
          "RefSeq": {
            "hgvs": "NM_000388.4:c.1750A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000491584.2:p.Lys584="
          },
          "RefSeq": {
            "hgvs": "NP_000379.3:p.Lys584="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826136171",
      "coordinates": [
        {
          "allele": "A",
          "end": 2225,
          "referenceAllele": "A",
          "start": 2224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001514",
      "geneNCBI_id": 846,
      "geneSymbol": "CASR",
      "hgvs": [
        "NM_001178065.2:c.1780A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171536.2:p.Lys594="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678929"
    }
  ],
  "type": "nucleotide"
}