{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1630855917",
  "communityStandardTitle": [
    "NM_004795.4(KL):c.1767C= (p.His589=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/564481",
        "rs": 564481
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 33060846,
          "referenceAllele": "C",
          "start": 33060845
        }
      ],
      "hgvs": [
        "NC_000013.11:g.33060846C=",
        "CM000675.2:g.33060846C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 33634983,
          "referenceAllele": "C",
          "start": 33634982
        }
      ],
      "hgvs": [
        "NC_000013.10:g.33634983C=",
        "CM000675.1:g.33634983C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 32532983,
          "referenceAllele": "C",
          "start": 32532982
        }
      ],
      "hgvs": [
        "NC_000013.9:g.32532983C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 49413,
          "referenceAllele": "C",
          "start": 49412
        }
      ],
      "hgvs": [
        "NG_011485.1:g.49413C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001753"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1785,
          "referenceAllele": "C",
          "start": 1784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006344",
      "geneNCBI_id": 9365,
      "geneSymbol": "KL",
      "hgvs": [
        "ENST00000380099.4:c.1767C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369442.3:p.His589="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752336",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380099.4:c.1767C="
          },
          "RefSeq": {
            "hgvs": "NM_004795.4:c.1767C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369442.3:p.His589="
          },
          "RefSeq": {
            "hgvs": "NP_004786.2:p.His589="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1775,
          "referenceAllele": "C",
          "start": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006344",
      "geneNCBI_id": 9365,
      "geneSymbol": "KL",
      "hgvs": [
        "ENST00000380099.3:c.1767C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369442.3:p.His589="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272777"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1825,
          "referenceAllele": "C",
          "start": 1824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006344",
      "geneNCBI_id": 9365,
      "geneSymbol": "KL",
      "hgvs": [
        "ENST00000487852.1:n.1825C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326317"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829567965",
      "coordinates": [
        {
          "allele": "C",
          "end": 1775,
          "referenceAllele": "C",
          "start": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006344",
      "geneNCBI_id": 9365,
      "geneSymbol": "KL",
      "hgvs": [
        "NM_004795.3:c.1767C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004786.2:p.His589="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029942"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1199,
          "referenceAllele": "C",
          "start": 1198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006344",
      "geneNCBI_id": 9365,
      "geneSymbol": "KL",
      "hgvs": [
        "XM_006719895.1:c.846C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006719958.1:p.His282="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073381"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1199,
          "referenceAllele": "C",
          "start": 1198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006344",
      "geneNCBI_id": 9365,
      "geneSymbol": "KL",
      "hgvs": [
        "XM_006719895.2:c.846C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006719958.1:p.His282="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539974"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829567965",
      "coordinates": [
        {
          "allele": "C",
          "end": 1785,
          "referenceAllele": "C",
          "start": 1784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006344",
      "geneNCBI_id": 9365,
      "geneSymbol": "KL",
      "hgvs": [
        "NM_004795.4:c.1767C="
      ],
      "proteinEffect": {
        "hgvs": "NP_004786.2:p.His589="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666660",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000380099.4:c.1767C="
          },
          "RefSeq": {
            "hgvs": "NM_004795.4:c.1767C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000369442.3:p.His589="
          },
          "RefSeq": {
            "hgvs": "NP_004786.2:p.His589="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}