{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1748888921",
  "communityStandardTitle": [
    "NM_000083.3(CLCN1):c.920T= (p.Phe307=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80356701",
        "rs": 80356701
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 143330838,
          "referenceAllele": "T",
          "start": 143330837
        }
      ],
      "hgvs": [
        "NC_000007.14:g.143330838T=",
        "CM000669.2:g.143330838T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 143027931,
          "referenceAllele": "T",
          "start": 143027930
        }
      ],
      "hgvs": [
        "NC_000007.13:g.143027931T=",
        "CM000669.1:g.143027931T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 142738053,
          "referenceAllele": "T",
          "start": 142738052
        }
      ],
      "hgvs": [
        "NC_000007.12:g.142738053T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 19713,
          "referenceAllele": "T",
          "start": 19712
        }
      ],
      "hgvs": [
        "NG_009815.1:g.19713T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001652"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 19713,
          "referenceAllele": "T",
          "start": 19712
        }
      ],
      "hgvs": [
        "NG_009815.2:g.19713T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706098"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1007,
          "referenceAllele": "T",
          "start": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "ENST00000650516.2:c.920T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498052.2:p.Phe307="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826806"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1022,
          "referenceAllele": "T",
          "start": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "ENST00000343257.7:c.920T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339867.2:p.Phe307="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748129",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000343257.7:c.920T="
          },
          "RefSeq": {
            "hgvs": "NM_000083.3:c.920T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339867.2:p.Phe307="
          },
          "RefSeq": {
            "hgvs": "NP_000074.3:p.Phe307="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 744,
          "referenceAllele": "T",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "ENST00000432192.6:c.744T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS755399"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 508,
          "referenceAllele": "T",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "ENST00000455478.6:c.508T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400027.2:n.508T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756514"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1007,
          "referenceAllele": "T",
          "start": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "ENST00000650516.1:c.920T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498052.1:p.Phe307="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771159"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1007,
          "referenceAllele": "T",
          "start": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "ENST00000343257.6:c.920T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339867.2:p.Phe307="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 434,
          "referenceAllele": "T",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "ENST00000432192.5:c.434T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS291981"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 512,
          "referenceAllele": "T",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "ENST00000455478.5:c.512T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS303066"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 221,
          "referenceAllele": "T",
          "start": 220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "ENST00000495612.1:n.221T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332280"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1007,
          "referenceAllele": "T",
          "start": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "NM_000083.2:c.920T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000074.2:p.Phe307="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006147"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1010,
          "referenceAllele": "T",
          "start": 1009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "NR_046453.1:n.1010T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051706"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 961,
          "referenceAllele": "T",
          "start": 960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "XM_011515781.1:c.920T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514083.1:p.Phe307="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082992"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 708,
          "referenceAllele": "T",
          "start": 707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "XM_017011739.1:c.470T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867228.1:p.Phe157="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565512"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 708,
          "referenceAllele": "T",
          "start": 707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "XM_017011740.1:c.470T="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867229.1:p.Phe157="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565513"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073457212",
      "coordinates": [
        {
          "allele": "T",
          "end": 1022,
          "referenceAllele": "T",
          "start": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "NM_000083.3:c.920T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000074.3:p.Phe307="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674691",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000343257.7:c.920T="
          },
          "RefSeq": {
            "hgvs": "NM_000083.3:c.920T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339867.2:p.Phe307="
          },
          "RefSeq": {
            "hgvs": "NP_000074.3:p.Phe307="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1025,
          "referenceAllele": "T",
          "start": 1024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "NR_046453.2:n.1025T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702503"
    }
  ],
  "type": "nucleotide"
}