{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1955119293",
  "communityStandardTitle": [
    "NM_000525.4(KCNJ11):c.574C= (p.Arg192=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/780511484",
        "rs": 780511484
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 17387518,
          "referenceAllele": "G",
          "start": 17387517
        }
      ],
      "hgvs": [
        "NC_000011.10:g.17387518G=",
        "CM000673.2:g.17387518G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 17409065,
          "referenceAllele": "G",
          "start": 17409064
        }
      ],
      "hgvs": [
        "NC_000011.9:g.17409065G=",
        "CM000673.1:g.17409065G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 17365641,
          "referenceAllele": "G",
          "start": 17365640
        }
      ],
      "hgvs": [
        "NC_000011.8:g.17365641G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6142,
          "referenceAllele": "C",
          "start": 6141
        }
      ],
      "hgvs": [
        "NG_012446.1:g.6142C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002407"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 399,
          "referenceAllele": "C",
          "start": 398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000682350.1:c.313C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508090.1:p.Arg105="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827342"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 383,
          "referenceAllele": "C",
          "start": 382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000682764.1:c.313C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506780.1:p.Arg105="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827753"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1142,
          "referenceAllele": "C",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000339994.5:c.574C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345708.4:p.Arg192="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747858",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000339994.5:c.574C="
          },
          "RefSeq": {
            "hgvs": "NM_000525.4:c.574C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345708.4:p.Arg192="
          },
          "RefSeq": {
            "hgvs": "NP_000516.3:p.Arg192="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1142,
          "referenceAllele": "C",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000339994.4:c.574C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345708.4:p.Arg192="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260991"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 633,
          "referenceAllele": "C",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000526912.1:c.313C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432729.1:p.Arg105="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352706"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 487,
          "referenceAllele": "C",
          "start": 486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "ENST00000528731.1:c.313C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434755.1:p.Arg105="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354225"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077954314",
      "coordinates": [
        {
          "allele": "C",
          "end": 1142,
          "referenceAllele": "C",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_000525.3:c.574C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000516.3:p.Arg192="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006582"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 487,
          "referenceAllele": "C",
          "start": 486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_001166290.1:c.313C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001159762.1:p.Arg105="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014866"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 638,
          "referenceAllele": "C",
          "start": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "XM_006718226.2:c.313C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006718289.1:p.Arg105="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072527"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 732,
          "referenceAllele": "C",
          "start": 731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "XR_930867.1:n.732C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS126994"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 771,
          "referenceAllele": "C",
          "start": 770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "XM_006718226.3:c.313C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006718289.1:p.Arg105="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539567"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 367,
          "referenceAllele": "C",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "XM_017017680.1:c.313C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016873169.1:p.Arg105="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569805"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 502,
          "referenceAllele": "C",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_001166290.2:c.313C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001159762.1:p.Arg105="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678486"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 705,
          "referenceAllele": "C",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_001377296.1:c.313C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001364225.1:p.Arg105="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695080"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 646,
          "referenceAllele": "C",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_001377297.1:c.313C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001364226.1:p.Arg105="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695081"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077954314",
      "coordinates": [
        {
          "allele": "C",
          "end": 1142,
          "referenceAllele": "C",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006257",
      "geneNCBI_id": 3767,
      "geneSymbol": "KCNJ11",
      "hgvs": [
        "NM_000525.4:c.574C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000516.3:p.Arg192="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710843",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000339994.5:c.574C="
          },
          "RefSeq": {
            "hgvs": "NM_000525.4:c.574C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345708.4:p.Arg192="
          },
          "RefSeq": {
            "hgvs": "NP_000516.3:p.Arg192="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}