{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1748893940",
  "communityStandardTitle": [
    "NM_000083.3(CLCN1):c.1663C= (p.His555=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201850090",
        "rs": 201850090
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 143342009,
          "referenceAllele": "C",
          "start": 143342008
        }
      ],
      "hgvs": [
        "NC_000007.14:g.143342009C=",
        "CM000669.2:g.143342009C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 143039102,
          "referenceAllele": "C",
          "start": 143039101
        }
      ],
      "hgvs": [
        "NC_000007.13:g.143039102C=",
        "CM000669.1:g.143039102C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 142749224,
          "referenceAllele": "C",
          "start": 142749223
        }
      ],
      "hgvs": [
        "NC_000007.12:g.142749224C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 30884,
          "referenceAllele": "C",
          "start": 30883
        }
      ],
      "hgvs": [
        "NG_009815.1:g.30884C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001652"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 30884,
          "referenceAllele": "C",
          "start": 30883
        }
      ],
      "hgvs": [
        "NG_009815.2:g.30884C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706098"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1750,
          "referenceAllele": "C",
          "start": 1749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "ENST00000650516.2:c.1663C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498052.2:p.His555="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826806"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1765,
          "referenceAllele": "C",
          "start": 1764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "ENST00000343257.7:c.1663C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339867.2:p.His555="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748129",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000343257.7:c.1663C="
          },
          "RefSeq": {
            "hgvs": "NM_000083.3:c.1663C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339867.2:p.His555="
          },
          "RefSeq": {
            "hgvs": "NP_000074.3:p.His555="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1487,
          "referenceAllele": "C",
          "start": 1486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "ENST00000432192.6:c.1487C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS755399"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1750,
          "referenceAllele": "C",
          "start": 1749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "ENST00000343257.6:c.1663C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339867.2:p.His555="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261727"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1750,
          "referenceAllele": "C",
          "start": 1749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "NM_000083.2:c.1663C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000074.2:p.His555="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006147"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1603,
          "referenceAllele": "C",
          "start": 1602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "NR_046453.1:n.1603C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051706"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1728,
          "referenceAllele": "C",
          "start": 1727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "XM_011515781.1:c.1687C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514083.1:p.His563="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082992"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 498,
          "referenceAllele": "C",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "XM_011515782.1:c.409C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514084.1:p.His137="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082993"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 498,
          "referenceAllele": "C",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "XM_011515782.2:c.409C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514084.1:p.His137="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543862"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1475,
          "referenceAllele": "C",
          "start": 1474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "XM_017011739.1:c.1237C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867228.1:p.His413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565512"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1451,
          "referenceAllele": "C",
          "start": 1450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "XM_017011740.1:c.1213C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867229.1:p.His405="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565513"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073514784",
      "coordinates": [
        {
          "allele": "C",
          "end": 1765,
          "referenceAllele": "C",
          "start": 1764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "NM_000083.3:c.1663C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000074.3:p.His555="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674691",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000343257.7:c.1663C="
          },
          "RefSeq": {
            "hgvs": "NM_000083.3:c.1663C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339867.2:p.His555="
          },
          "RefSeq": {
            "hgvs": "NP_000074.3:p.His555="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1618,
          "referenceAllele": "C",
          "start": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "NR_046453.2:n.1618C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702503"
    }
  ],
  "type": "nucleotide"
}