{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1167978158",
  "communityStandardTitle": [
    "NM_174936.4(PCSK9):c.385G= (p.Asp129=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/778738291",
        "rs": 778738291
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 55044020,
          "referenceAllele": "G",
          "start": 55044019
        }
      ],
      "hgvs": [
        "NC_000001.11:g.55044020G=",
        "CM000663.2:g.55044020G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 55509693,
          "referenceAllele": "G",
          "start": 55509692
        }
      ],
      "hgvs": [
        "NC_000001.10:g.55509693G=",
        "CM000663.1:g.55509693G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 55282281,
          "referenceAllele": "G",
          "start": 55282280
        }
      ],
      "hgvs": [
        "NC_000001.9:g.55282281G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9474,
          "referenceAllele": "G",
          "start": 9473
        }
      ],
      "hgvs": [
        "NG_009061.1:g.9474G=",
        "LRG_275:g.9474G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001403"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 761,
          "referenceAllele": "G",
          "start": 760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020001",
      "geneNCBI_id": 255738,
      "geneSymbol": "PCSK9",
      "hgvs": [
        "ENST00000673913.2:c.385G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501161.2:p.Asp129="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914451"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 767,
          "referenceAllele": "G",
          "start": 766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020001",
      "geneNCBI_id": 255738,
      "geneSymbol": "PCSK9",
      "hgvs": [
        "ENST00000710286.1:c.742G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518176.1:p.Asp248="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914510"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 55,
          "referenceAllele": "G",
          "start": 54
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020001",
      "geneNCBI_id": 255738,
      "geneSymbol": "PCSK9",
      "hgvs": [
        "ENST00000673662.1:n.55G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773766"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 776,
          "referenceAllele": "G",
          "start": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020001",
      "geneNCBI_id": 255738,
      "geneSymbol": "PCSK9",
      "hgvs": [
        "ENST00000673726.1:c.385G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501004.1:p.Asp129="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773820"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 287,
          "referenceAllele": "G",
          "start": 286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020001",
      "geneNCBI_id": 255738,
      "geneSymbol": "PCSK9",
      "hgvs": [
        "ENST00000673903.1:c.10G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501257.1:p.Asp4="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773959"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 675,
          "referenceAllele": "G",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020001",
      "geneNCBI_id": 255738,
      "geneSymbol": "PCSK9",
      "hgvs": [
        "ENST00000302118.5:c.385G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303208.5:p.Asp129="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247137",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302118.5:c.385G="
          },
          "RefSeq": {
            "hgvs": "NM_174936.4:c.385G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000303208.5:p.Asp129="
          },
          "RefSeq": {
            "hgvs": "NP_777596.2:p.Asp129="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830374685",
      "coordinates": [
        {
          "allele": "G",
          "end": 747,
          "referenceAllele": "G",
          "start": 746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020001",
      "geneNCBI_id": 255738,
      "geneSymbol": "PCSK9",
      "hgvs": [
        "NM_174936.3:c.385G=",
        "LRG_275t1:c.385G="
      ],
      "proteinEffect": {
        "hgvs": "NP_777596.2:p.Asp129="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043109"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 182,
          "endIntronDirection": "+",
          "endIntronOffset": 3617,
          "referenceAllele": "G",
          "start": 182,
          "startIntronDirection": "+",
          "startIntronOffset": 3616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020001",
      "geneNCBI_id": 255738,
      "geneSymbol": "PCSK9",
      "hgvs": [
        "NR_110451.1:n.182+3617G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054660"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830374685",
      "coordinates": [
        {
          "allele": "G",
          "end": 675,
          "referenceAllele": "G",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020001",
      "geneNCBI_id": 255738,
      "geneSymbol": "PCSK9",
      "hgvs": [
        "NM_174936.4:c.385G="
      ],
      "proteinEffect": {
        "hgvs": "NP_777596.2:p.Asp129="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700683",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302118.5:c.385G="
          },
          "RefSeq": {
            "hgvs": "NM_174936.4:c.385G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000303208.5:p.Asp129="
          },
          "RefSeq": {
            "hgvs": "NP_777596.2:p.Asp129="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 182,
          "endIntronDirection": "+",
          "endIntronOffset": 3617,
          "referenceAllele": "G",
          "start": 182,
          "startIntronDirection": "+",
          "startIntronOffset": 3616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020001",
      "geneNCBI_id": 255738,
      "geneSymbol": "PCSK9",
      "hgvs": [
        "NR_110451.2:n.182+3617G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730710"
    }
  ],
  "type": "nucleotide"
}