{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2317361375",
  "communityStandardTitle": [
    "NM_001972.4(ELANE):c.427C= (p.Arg143=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199558534",
        "rs": 199558534
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 855624,
          "referenceAllele": "C",
          "start": 855623
        }
      ],
      "hgvs": [
        "NC_000019.10:g.855624C=",
        "CM000681.2:g.855624C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 855624,
          "referenceAllele": "C",
          "start": 855623
        }
      ],
      "hgvs": [
        "NC_000019.9:g.855624C=",
        "CM000681.1:g.855624C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 806624,
          "referenceAllele": "C",
          "start": 806623
        }
      ],
      "hgvs": [
        "NC_000019.8:g.806624C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 960,
          "referenceAllele": "C",
          "start": 959
        }
      ],
      "hgvs": [
        "NG_007274.1:g.960C=",
        "LRG_46:g.960C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000522"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8334,
          "referenceAllele": "C",
          "start": 8333
        }
      ],
      "hgvs": [
        "NG_009627.1:g.8334C=",
        "LRG_57:g.8334C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001618"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 453,
          "referenceAllele": "C",
          "start": 452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003309",
      "geneNCBI_id": 1991,
      "geneSymbol": "ELANE",
      "hgvs": [
        "ENST00000263621.2:c.427C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263621.1:p.Arg143="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742533",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263621.2:c.427C="
          },
          "RefSeq": {
            "hgvs": "NM_001972.4:c.427C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263621.1:p.Arg143="
          },
          "RefSeq": {
            "hgvs": "NP_001963.1:p.Arg143="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 465,
          "referenceAllele": "C",
          "start": 464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003309",
      "geneNCBI_id": 1991,
      "geneSymbol": "ELANE",
      "hgvs": [
        "ENST00000263621.1:c.427C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263621.1:p.Arg143="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251302"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 568,
          "referenceAllele": "C",
          "start": 567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003309",
      "geneNCBI_id": 1991,
      "geneSymbol": "ELANE",
      "hgvs": [
        "ENST00000590230.5:c.427C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466090.1:p.Arg143="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392049"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085932238",
      "coordinates": [
        {
          "allele": "C",
          "end": 465,
          "referenceAllele": "C",
          "start": 464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003309",
      "geneNCBI_id": 1991,
      "geneSymbol": "ELANE",
      "hgvs": [
        "NM_001972.2:c.427C=",
        "LRG_57t1:c.427C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001963.1:p.Arg143="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027298"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1224,
          "referenceAllele": "C",
          "start": 1223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003309",
      "geneNCBI_id": 1991,
      "geneSymbol": "ELANE",
      "hgvs": [
        "XM_011527775.1:c.427C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526077.1:p.Arg143="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094858"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 563,
          "referenceAllele": "C",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003309",
      "geneNCBI_id": 1991,
      "geneSymbol": "ELANE",
      "hgvs": [
        "XM_011527776.1:c.427C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526078.1:p.Arg143="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094859"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085932238",
      "coordinates": [
        {
          "allele": "C",
          "end": 547,
          "referenceAllele": "C",
          "start": 546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003309",
      "geneNCBI_id": 1991,
      "geneSymbol": "ELANE",
      "hgvs": [
        "NM_001972.3:c.427C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001963.1:p.Arg143="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524940"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085932238",
      "coordinates": [
        {
          "allele": "C",
          "end": 453,
          "referenceAllele": "C",
          "start": 452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003309",
      "geneNCBI_id": 1991,
      "geneSymbol": "ELANE",
      "hgvs": [
        "NM_001972.4:c.427C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001963.1:p.Arg143="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665281",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263621.2:c.427C="
          },
          "RefSeq": {
            "hgvs": "NM_001972.4:c.427C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263621.1:p.Arg143="
          },
          "RefSeq": {
            "hgvs": "NP_001963.1:p.Arg143="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}