{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2187190713",
  "communityStandardTitle": [
    "NM_005477.3(HCN4):c.1657G= (p.Asp553=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894485",
        "rs": 104894485
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 73325378,
          "referenceAllele": "C",
          "start": 73325377
        }
      ],
      "hgvs": [
        "NC_000015.10:g.73325378C=",
        "CM000677.2:g.73325378C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 73617719,
          "referenceAllele": "C",
          "start": 73617718
        }
      ],
      "hgvs": [
        "NC_000015.9:g.73617719C=",
        "CM000677.1:g.73617719C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 71404772,
          "referenceAllele": "C",
          "start": 71404771
        }
      ],
      "hgvs": [
        "NC_000015.8:g.71404772C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 48887,
          "referenceAllele": "G",
          "start": 48886
        }
      ],
      "hgvs": [
        "NG_009063.1:g.48887G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001405"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2345,
          "referenceAllele": "G",
          "start": 2344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016882",
      "geneNCBI_id": 10021,
      "geneSymbol": "HCN4",
      "hgvs": [
        "ENST00000261917.4:c.1657G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261917.3:p.Asp553="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742242",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261917.4:c.1657G="
          },
          "RefSeq": {
            "hgvs": "NM_005477.3:c.1657G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261917.3:p.Asp553="
          },
          "RefSeq": {
            "hgvs": "NP_005468.1:p.Asp553="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2651,
          "referenceAllele": "G",
          "start": 2650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016882",
      "geneNCBI_id": 10021,
      "geneSymbol": "HCN4",
      "hgvs": [
        "ENST00000261917.3:c.1657G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261917.3:p.Asp553="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250887"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081916582",
      "coordinates": [
        {
          "allele": "G",
          "end": 2651,
          "referenceAllele": "G",
          "start": 2650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016882",
      "geneNCBI_id": 10021,
      "geneSymbol": "HCN4",
      "hgvs": [
        "NM_005477.2:c.1657G="
      ],
      "proteinEffect": {
        "hgvs": "NP_005468.1:p.Asp553="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030570"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 499,
          "referenceAllele": "G",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016882",
      "geneNCBI_id": 10021,
      "geneSymbol": "HCN4",
      "hgvs": [
        "XM_011521148.1:c.439G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519450.1:p.Asp147="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088312"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 494,
          "referenceAllele": "G",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016882",
      "geneNCBI_id": 10021,
      "geneSymbol": "HCN4",
      "hgvs": [
        "XM_011521148.2:c.439G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011519450.1:p.Asp147="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546007"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081916582",
      "coordinates": [
        {
          "allele": "G",
          "end": 2345,
          "referenceAllele": "G",
          "start": 2344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016882",
      "geneNCBI_id": 10021,
      "geneSymbol": "HCN4",
      "hgvs": [
        "NM_005477.3:c.1657G="
      ],
      "proteinEffect": {
        "hgvs": "NP_005468.1:p.Asp553="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666987",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261917.4:c.1657G="
          },
          "RefSeq": {
            "hgvs": "NM_005477.3:c.1657G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261917.3:p.Asp553="
          },
          "RefSeq": {
            "hgvs": "NP_005468.1:p.Asp553="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}