{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA007978", "communityStandardTitle": [ "NM_000179.3(MSH6):c.1082G>A (p.Arg361His)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=190062", "active": true, "id": "COSM190062" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=94642[alleleid]", "alleleId": 94642, "preferredName": "NM_000179.3(MSH6):c.1082G>A (p.Arg361His)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/89168", "RCV": [ "RCV000074629", "RCV000409637", "RCV000487116", "RCV000567227", "RCV000701439", "RCV003466931" ], "variationId": 89168 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/2-48026204-G-A", "id": "2-48026204-G-A", "variant": "2:48026204 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.48026204G>A?assembly=hg19", "id": "chr2:g.48026204G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.47799065G>A?assembly=hg38", "id": "chr2:g.47799065G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/63750440", "rs": 63750440 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-48026204-G-A?dataset=gnomad_r2_1", "id": "2-48026204-G-A", "variant": "2:48026204 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-47799065-G-A?dataset=gnomad_r4", "id": "2-47799065-G-A", "variant": "2:47799065 G / A" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 47799065, "referenceAllele": "G", "start": 47799064 } ], "hgvs": [ "NC_000002.12:g.47799065G>A", "CM000664.2:g.47799065G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 48026204, "referenceAllele": "G", "start": 48026203 } ], "hgvs": [ "NC_000002.11:g.48026204G>A", "CM000664.1:g.48026204G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 47879708, "referenceAllele": "G", "start": 47879707 } ], "hgvs": [ "NC_000002.10:g.47879708G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 20919, "referenceAllele": "G", "start": 20918 } ], "hgvs": [ "NG_007111.1:g.20919G>A", "LRG_219:g.20919G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000487" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 880, "referenceAllele": "G", "start": 879 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000411819.2:c.785G>A" ], "proteinEffect": { "hgvs": "ENSP00000406248.2:p.Arg262His", "hgvsWellDefined": "ENSP00000406248.2:p.Arg262His" }, "referenceSequence": "http://reg.genome.network/refseq/RS914023" }, { "coordinates": [ { "allele": "A", "end": 1012, "referenceAllele": "G", "start": 1011 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000420813.6:c.785G>A" ], "proteinEffect": { "hgvs": "ENSP00000390382.2:p.Arg262His", "hgvsWellDefined": "ENSP00000390382.2:p.Arg262His" }, "referenceSequence": "http://reg.genome.network/refseq/RS914038" }, { "coordinates": [ { "allele": "A", "end": 1016, "referenceAllele": "G", "start": 1015 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000455383.6:c.785G>A" ], "proteinEffect": { "hgvs": "ENSP00000397484.2:p.Arg262His", "hgvsWellDefined": "ENSP00000397484.2:p.Arg262His" }, "referenceSequence": "http://reg.genome.network/refseq/RS914094" }, { "coordinates": [ { "allele": "A", "end": 1166, "referenceAllele": "G", "start": 1165 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000700004.2:c.1082G>A" ], "proteinEffect": { "hgvs": "ENSP00000514752.2:p.Arg361His", "hgvsWellDefined": "ENSP00000514752.2:p.Arg361His" }, "referenceSequence": "http://reg.genome.network/refseq/RS914477" }, { "coordinates": [ { "allele": "A", "end": 1166, "referenceAllele": "G", "start": 1165 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000699999.1:n.1166G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS910870" }, { "coordinates": [ { "allele": "A", "end": 1165, "referenceAllele": "G", "start": 1164 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000700000.1:c.1082G>A" ], "proteinEffect": { "hgvs": "ENSP00000514749.1:p.Arg361His", "hgvsWellDefined": "ENSP00000514749.1:p.Arg361His" }, "referenceSequence": "http://reg.genome.network/refseq/RS910871" }, { "coordinates": [ { "allele": "A", "end": 1160, "referenceAllele": "G", "start": 1159 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000700002.1:c.1088G>A" ], "proteinEffect": { "hgvs": "ENSP00000514750.1:p.Arg363His", "hgvsWellDefined": "ENSP00000514750.1:p.Arg363His" }, "referenceSequence": "http://reg.genome.network/refseq/RS910873" }, { "coordinates": [ { "allele": "A", "end": 627, "endIntronDirection": "+", "endIntronOffset": 3002, "referenceAllele": "G", "start": 627, "startIntronDirection": "+", "startIntronOffset": 3001 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000700003.1:c.627+3002G>A" ], "proteinEffect": { "hgvs": "ENSP00000514751.1:n.627+3002G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS910874" }, { "coordinates": [ { "allele": "A", "end": 239, "referenceAllele": "G", "start": 238 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000700004.1:c.239G>A" ], "proteinEffect": { "hgvs": "ENSP00000514752.1:p.Arg80His", "hgvsWellDefined": "ENSP00000514752.1:p.Arg80His" }, "referenceSequence": "http://reg.genome.network/refseq/RS910875" }, { "coordinates": [ { "allele": "A", "end": 1171, "referenceAllele": "G", "start": 1170 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000234420.11:c.1082G>A" ], "proteinEffect": { "hgvs": "ENSP00000234420.5:p.Arg361His", "hgvsWellDefined": "ENSP00000234420.5:p.Arg361His" }, "referenceSequence": "http://reg.genome.network/refseq/RS740955", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000234420.11:c.1082G>A" }, "RefSeq": { "hgvs": "NM_000179.3:c.1082G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000234420.5:p.Arg361His" }, "RefSeq": { "hgvs": "NP_000170.1:p.Arg361His" } } } }, { "coordinates": [ { "allele": "A", "end": 743, "referenceAllele": "G", "start": 742 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000540021.6:c.692G>A" ], "proteinEffect": { "hgvs": "ENSP00000446475.1:p.Arg231His", "hgvsWellDefined": "ENSP00000446475.1:p.Arg231His" }, "referenceSequence": "http://reg.genome.network/refseq/RS759617" }, { "coordinates": [ { "allele": "A", "end": 1465, "referenceAllele": "G", "start": 1464 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000652107.1:c.785G>A" ], "proteinEffect": { "hgvs": "ENSP00000498629.1:p.Arg262His", "hgvsWellDefined": "ENSP00000498629.1:p.Arg262His" }, "referenceSequence": "http://reg.genome.network/refseq/RS772029" }, { "coordinates": [ { "allele": "A", "end": 903, "referenceAllele": "G", "start": 902 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000673637.1:c.785G>A" ], "proteinEffect": { "hgvs": "ENSP00000501310.1:p.Arg262His", "hgvsWellDefined": "ENSP00000501310.1:p.Arg262His" }, "referenceSequence": "http://reg.genome.network/refseq/RS773747" }, { "coordinates": [ { "allele": "A", "end": 1234, "referenceAllele": "G", "start": 1233 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000234420.9:c.1082G>A" ], "proteinEffect": { "hgvs": "ENSP00000234420.4:p.Arg361His", "hgvsWellDefined": "ENSP00000234420.4:p.Arg361His" }, "referenceSequence": "http://reg.genome.network/refseq/RS247309" }, { "coordinates": [ { "allele": "T", "end": 180, "endIntronDirection": "+", "endIntronOffset": 9130, "referenceAllele": "C", "start": 180, "startIntronDirection": "+", "startIntronOffset": 9129 } ], "gene": "http://reg.genome.network/gene/GN013590", "geneNCBI_id": 80204, "geneSymbol": "FBXO11", "hgvs": [ "ENST00000405808.5:c.169+9130C>T" ], "proteinEffect": { "hgvs": "ENSP00000385127.1:n.169+9130C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247134" }, { "coordinates": [ { "allele": "T", "end": 447, "endIntronDirection": "+", "endIntronOffset": 8929, "referenceAllele": "C", "start": 447, "startIntronDirection": "+", "startIntronOffset": 8928 } ], "gene": "http://reg.genome.network/gene/GN013590", "geneNCBI_id": 80204, "geneSymbol": "FBXO11", "hgvs": [ "ENST00000434234.5:c.*124+8929C>T" ], "proteinEffect": { "hgvs": "ENSP00000402692.1:n.*124+8929C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS292930" }, { "coordinates": [ { "allele": "A", "end": 1064, "referenceAllele": "G", "start": 1063 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000445503.5:c.*429G>A" ], "proteinEffect": { "hgvs": "ENSP00000405294.1:n.*429G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS298311" }, { "coordinates": [ { "allele": "A", "end": 969, "referenceAllele": "G", "start": 968 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000538136.1:c.176G>A" ], "proteinEffect": { "hgvs": "ENSP00000438580.1:p.Arg59His", "hgvsWellDefined": "ENSP00000438580.1:p.Arg59His" }, "referenceSequence": "http://reg.genome.network/refseq/RS247195" }, { "coordinates": [ { "allele": "A", "end": 844, "referenceAllele": "G", "start": 843 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000540021.5:c.692G>A" ], "proteinEffect": { "hgvs": "ENSP00000446475.1:p.Arg231His", "hgvsWellDefined": "ENSP00000446475.1:p.Arg231His" }, "referenceSequence": "http://reg.genome.network/refseq/RS247186" }, { "coordinates": [ { "allele": "A", "end": 1064, "referenceAllele": "G", "start": 1063 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000614496.4:c.176G>A" ], "proteinEffect": { "hgvs": "ENSP00000477844.1:p.Arg59His", "hgvsWellDefined": "ENSP00000477844.1:p.Arg59His" }, "referenceSequence": "http://reg.genome.network/refseq/RS402225" }, { "coordinates": [ { "allele": "A", "end": 1162, "referenceAllele": "G", "start": 1161 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000616033.4:c.1079G>A" ], "proteinEffect": { "hgvs": "ENSP00000480261.1:p.Arg360His", "hgvsWellDefined": "ENSP00000480261.1:p.Arg360His" }, "referenceSequence": "http://reg.genome.network/refseq/RS402884" }, { "coordinates": [ { "allele": "A", "end": 1234, "referenceAllele": "G", "start": 1233 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "ENST00000622629.4:c.-2015G>A" ], "proteinEffect": { "hgvs": "ENSP00000482078.1:n.-2015G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS405814" }, { "@id": "http://reg.genome.network/allele/PA330345", "coordinates": [ { "allele": "A", "end": 1234, "referenceAllele": "G", "start": 1233 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_000179.2:c.1082G>A", "LRG_219t1:c.1082G>A" ], "proteinEffect": { "hgvs": "NP_000170.1:p.Arg361His", "hgvsWellDefined": "NP_000170.1:p.Arg361His" }, "referenceSequence": "http://reg.genome.network/refseq/RS006241" }, { "@id": "http://reg.genome.network/allele/PA2826625399", "coordinates": [ { "allele": "A", "end": 844, "referenceAllele": "G", "start": 843 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_001281492.1:c.692G>A" ], "proteinEffect": { "hgvs": "NP_001268421.1:p.Arg231His", "hgvsWellDefined": "NP_001268421.1:p.Arg231His" }, "referenceSequence": "http://reg.genome.network/refseq/RS021654" }, { "@id": "http://reg.genome.network/allele/PA2826629745", "coordinates": [ { "allele": "A", "end": 1064, "referenceAllele": "G", "start": 1063 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_001281493.1:c.176G>A" ], "proteinEffect": { "hgvs": "NP_001268422.1:p.Arg59His", "hgvsWellDefined": "NP_001268422.1:p.Arg59His" }, "referenceSequence": "http://reg.genome.network/refseq/RS021655" }, { "@id": "http://reg.genome.network/allele/PA916011702", "coordinates": [ { "allele": "A", "end": 969, "referenceAllele": "G", "start": 968 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_001281494.1:c.176G>A" ], "proteinEffect": { "hgvs": "NP_001268423.1:p.Arg59His", "hgvsWellDefined": "NP_001268423.1:p.Arg59His" }, "referenceSequence": "http://reg.genome.network/refseq/RS021656" }, { "coordinates": [ { "allele": "A", "end": 880, "referenceAllele": "G", "start": 879 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_005264271.1:c.785G>A" ], "proteinEffect": { "hgvs": "XP_005264328.1:p.Arg262His", "hgvsWellDefined": "XP_005264328.1:p.Arg262His" }, "referenceSequence": "http://reg.genome.network/refseq/RS064144" }, { "coordinates": [ { "allele": "A", "end": 941, "referenceAllele": "G", "start": 940 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_011532798.1:c.899G>A" ], "proteinEffect": { "hgvs": "XP_011531100.1:p.Arg300His", "hgvsWellDefined": "XP_011531100.1:p.Arg300His" }, "referenceSequence": "http://reg.genome.network/refseq/RS099824" }, { "coordinates": [ { "allele": "A", "end": 1016, "referenceAllele": "G", "start": 1015 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_011532799.1:c.785G>A" ], "proteinEffect": { "hgvs": "XP_011531101.1:p.Arg262His", "hgvsWellDefined": "XP_011531101.1:p.Arg262His" }, "referenceSequence": "http://reg.genome.network/refseq/RS099825" }, { "coordinates": [ { "allele": "A", "end": 897, "referenceAllele": "G", "start": 896 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_011532800.1:c.785G>A" ], "proteinEffect": { "hgvs": "XP_011531102.1:p.Arg262His", "hgvsWellDefined": "XP_011531102.1:p.Arg262His" }, "referenceSequence": "http://reg.genome.network/refseq/RS099826" }, { "coordinates": [ { "allele": "A", "end": 1171, "referenceAllele": "G", "start": 1170 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_024452819.1:c.1082G>A" ], "proteinEffect": { "hgvs": "XP_024308587.1:p.Arg361His", "hgvsWellDefined": "XP_024308587.1:p.Arg361His" }, "referenceSequence": "http://reg.genome.network/refseq/RS586209" }, { "coordinates": [ { "allele": "A", "end": 941, "referenceAllele": "G", "start": 940 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_024452820.1:c.899G>A" ], "proteinEffect": { "hgvs": "XP_024308588.1:p.Arg300His", "hgvsWellDefined": "XP_024308588.1:p.Arg300His" }, "referenceSequence": "http://reg.genome.network/refseq/RS586210" }, { "coordinates": [ { "allele": "A", "end": 1016, "referenceAllele": "G", "start": 1015 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_024452821.1:c.785G>A" ], "proteinEffect": { "hgvs": "XP_024308589.1:p.Arg262His", "hgvsWellDefined": "XP_024308589.1:p.Arg262His" }, "referenceSequence": "http://reg.genome.network/refseq/RS586211" }, { "coordinates": [ { "allele": "A", "end": 968, "referenceAllele": "G", "start": 967 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "XM_024452822.1:c.176G>A" ], "proteinEffect": { "hgvs": "XP_024308590.1:p.Arg59His", "hgvsWellDefined": "XP_024308590.1:p.Arg59His" }, "referenceSequence": "http://reg.genome.network/refseq/RS586212" }, { "@id": "http://reg.genome.network/allele/PA330345", "coordinates": [ { "allele": "A", "end": 1171, "referenceAllele": "G", "start": 1170 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_000179.3:c.1082G>A" ], "proteinEffect": { "hgvs": "NP_000170.1:p.Arg361His", "hgvsWellDefined": "NP_000170.1:p.Arg361His" }, "referenceSequence": "http://reg.genome.network/refseq/RS674738", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000234420.11:c.1082G>A" }, "RefSeq": { "hgvs": "NM_000179.3:c.1082G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000234420.5:p.Arg361His" }, "RefSeq": { "hgvs": "NP_000170.1:p.Arg361His" } } } }, { "@id": "http://reg.genome.network/allele/PA2826625399", "coordinates": [ { "allele": "A", "end": 781, "referenceAllele": "G", "start": 780 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_001281492.2:c.692G>A" ], "proteinEffect": { "hgvs": "NP_001268421.1:p.Arg231His", "hgvsWellDefined": "NP_001268421.1:p.Arg231His" }, "referenceSequence": "http://reg.genome.network/refseq/RS715702" }, { "@id": "http://reg.genome.network/allele/PA2826629745", "coordinates": [ { "allele": "A", "end": 1001, "referenceAllele": "G", "start": 1000 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_001281493.2:c.176G>A" ], "proteinEffect": { "hgvs": "NP_001268422.1:p.Arg59His", "hgvsWellDefined": "NP_001268422.1:p.Arg59His" }, "referenceSequence": "http://reg.genome.network/refseq/RS715703" }, { "@id": "http://reg.genome.network/allele/PA916011702", "coordinates": [ { "allele": "A", "end": 969, "referenceAllele": "G", "start": 968 } ], "gene": "http://reg.genome.network/gene/GN007329", "geneNCBI_id": 2956, "geneSymbol": "MSH6", "hgvs": [ "NM_001281494.2:c.176G>A" ], "proteinEffect": { "hgvs": "NP_001268423.1:p.Arg59His", "hgvsWellDefined": "NP_001268423.1:p.Arg59His" }, "referenceSequence": "http://reg.genome.network/refseq/RS715704" } ], "type": "nucleotide" }