{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA8241574", "communityStandardTitle": [ "NM_013275.6(ANKRD11):c.6130G>A (p.Val2044Ile)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=949632[alleleid]", "alleleId": 949632, "preferredName": "NM_013275.6(ANKRD11):c.6130G>A (p.Val2044Ile)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/959170", "RCV": [ "RCV001232466", "RCV001547478", "RCV002563225" ], "variationId": 959170 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/16-89346820-C-T", "id": "16-89346820-C-T", "variant": "16:89346820 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.89346820C>T?assembly=hg19", "id": "chr16:g.89346820C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.89280412C>T?assembly=hg38", "id": "chr16:g.89280412C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/372141194", "rs": 372141194 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-89346820-C-T?dataset=gnomad_r2_1", "id": "16-89346820-C-T", "variant": "16:89346820 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-89280412-C-T?dataset=gnomad_r3", "id": "16-89280412-C-T", "variant": "16:89280412 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-89280412-C-T?dataset=gnomad_r4", "id": "16-89280412-C-T", "variant": "16:89280412 C / T" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 89280412, "referenceAllele": "C", "start": 89280411 } ], "hgvs": [ "NC_000016.10:g.89280412C>T", "CM000678.2:g.89280412C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 89346820, "referenceAllele": "C", "start": 89346819 } ], "hgvs": [ "NC_000016.9:g.89346820C>T", "CM000678.1:g.89346820C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 87874321, "referenceAllele": "C", "start": 87874320 } ], "hgvs": [ "NC_000016.8:g.87874321C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "A", "end": 215150, "referenceAllele": "G", "start": 215149 } ], "hgvs": [ "NG_032003.1:g.215150G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS005088" }, { "coordinates": [ { "allele": "A", "end": 215150, "referenceAllele": "G", "start": 215149 } ], "hgvs": [ "NG_032003.2:g.215150G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS673857" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 6591, "referenceAllele": "G", "start": 6590 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000301030.10:c.6130G>A" ], "proteinEffect": { "hgvs": "ENSP00000301030.4:p.Val2044Ile", "hgvsWellDefined": "ENSP00000301030.4:p.Val2044Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS744803", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000301030.10:c.6130G>A" }, "RefSeq": { "hgvs": "NM_013275.6:c.6130G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301030.4:p.Val2044Ile" }, "RefSeq": { "hgvs": "NP_037407.4:p.Val2044Ile" } } } }, { "coordinates": [ { "allele": "A", "end": 6443, "referenceAllele": "G", "start": 6442 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000330736.10:c.*5933G>A" ], "proteinEffect": { "hgvs": "ENSP00000330815.5:n.*5933G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS747095" }, { "coordinates": [ { "allele": "A", "end": 6421, "referenceAllele": "G", "start": 6420 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000378330.7:c.6130G>A" ], "proteinEffect": { "hgvs": "ENSP00000367581.2:p.Val2044Ile", "hgvsWellDefined": "ENSP00000367581.2:p.Val2044Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS752067" }, { "coordinates": [ { "allele": "A", "end": 6506, "referenceAllele": "G", "start": 6505 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000642600.1:c.6130G>A" ], "proteinEffect": { "hgvs": "ENSP00000495226.1:p.Val2044Ile", "hgvsWellDefined": "ENSP00000495226.1:p.Val2044Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS766832" }, { "coordinates": [ { "allele": "A", "end": 744, "endIntronDirection": "-", "endIntronOffset": 5220, "referenceAllele": "G", "start": 744, "startIntronDirection": "-", "startIntronOffset": 5221 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000644285.1:c.745-5221G>A" ], "proteinEffect": { "hgvs": "ENSP00000496476.1:n.745-5221G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767741" }, { "coordinates": [ { "allele": "A", "end": 6591, "referenceAllele": "G", "start": 6590 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000301030.8:c.6130G>A" ], "proteinEffect": { "hgvs": "ENSP00000301030.4:p.Val2044Ile", "hgvsWellDefined": "ENSP00000301030.4:p.Val2044Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS254944" }, { "coordinates": [ { "allele": "A", "end": 6350, "referenceAllele": "G", "start": 6349 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000330736.9:c.*5933G>A" ], "proteinEffect": { "hgvs": "ENSP00000330815.5:n.*5933G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS259288" }, { "coordinates": [ { "allele": "A", "end": 6419, "referenceAllele": "G", "start": 6418 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000378330.6:c.6130G>A" ], "proteinEffect": { "hgvs": "ENSP00000367581.2:p.Val2044Ile", "hgvsWellDefined": "ENSP00000367581.2:p.Val2044Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS271989" }, { "coordinates": [ { "allele": "A", "end": 151, "endIntronDirection": "-", "endIntronOffset": 5220, "referenceAllele": "G", "start": 151, "startIntronDirection": "-", "startIntronOffset": 5221 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000562194.1:c.152-5221G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS376627" }, { "@id": "http://reg.genome.network/allele/PA2826374225", "coordinates": [ { "allele": "A", "end": 6662, "referenceAllele": "G", "start": 6661 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256182.1:c.6130G>A" ], "proteinEffect": { "hgvs": "NP_001243111.1:p.Val2044Ile", "hgvsWellDefined": "NP_001243111.1:p.Val2044Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS019125" }, { "@id": "http://reg.genome.network/allele/PA2826376085", "coordinates": [ { "allele": "A", "end": 6588, "referenceAllele": "G", "start": 6587 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256183.1:c.6130G>A" ], "proteinEffect": { "hgvs": "NP_001243112.1:p.Val2044Ile", "hgvsWellDefined": "NP_001243112.1:p.Val2044Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS019126" }, { "@id": "http://reg.genome.network/allele/PA1139725550", "coordinates": [ { "allele": "A", "end": 6591, "referenceAllele": "G", "start": 6590 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_013275.5:c.6130G>A" ], "proteinEffect": { "hgvs": "NP_037407.4:p.Val2044Ile", "hgvsWellDefined": "NP_037407.4:p.Val2044Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS032679" }, { "coordinates": [ { "allele": "A", "end": 6368, "referenceAllele": "G", "start": 6367 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_006721181.1:c.6028G>A" ], "proteinEffect": { "hgvs": "XP_006721244.1:p.Val2010Ile", "hgvsWellDefined": "XP_006721244.1:p.Val2010Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS073977" }, { "coordinates": [ { "allele": "A", "end": 6406, "referenceAllele": "G", "start": 6405 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_006721184.2:c.5833G>A" ], "proteinEffect": { "hgvs": "XP_006721247.1:p.Val1945Ile", "hgvsWellDefined": "XP_006721247.1:p.Val1945Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS073978" }, { "coordinates": [ { "allele": "A", "end": 6648, "referenceAllele": "G", "start": 6647 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523051.1:c.6130G>A" ], "proteinEffect": { "hgvs": "XP_011521353.1:p.Val2044Ile", "hgvsWellDefined": "XP_011521353.1:p.Val2044Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS090191" }, { "coordinates": [ { "allele": "A", "end": 6353, "referenceAllele": "G", "start": 6352 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523052.1:c.6130G>A" ], "proteinEffect": { "hgvs": "XP_011521354.1:p.Val2044Ile", "hgvsWellDefined": "XP_011521354.1:p.Val2044Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS090192" }, { "coordinates": [ { "allele": "A", "end": 6786, "referenceAllele": "G", "start": 6785 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523053.1:c.6130G>A" ], "proteinEffect": { "hgvs": "XP_011521355.1:p.Val2044Ile", "hgvsWellDefined": "XP_011521355.1:p.Val2044Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS090193" }, { "coordinates": [ { "allele": "A", "end": 6701, "referenceAllele": "G", "start": 6700 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523054.1:c.6028G>A" ], "proteinEffect": { "hgvs": "XP_011521356.1:p.Val2010Ile", "hgvsWellDefined": "XP_011521356.1:p.Val2010Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS090194" }, { "coordinates": [ { "allele": "A", "end": 6974, "referenceAllele": "G", "start": 6973 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523055.1:c.6028G>A" ], "proteinEffect": { "hgvs": "XP_011521357.1:p.Val2010Ile", "hgvsWellDefined": "XP_011521357.1:p.Val2010Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS090195" }, { "coordinates": [ { "allele": "A", "end": 6723, "referenceAllele": "G", "start": 6722 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523056.1:c.6001G>A" ], "proteinEffect": { "hgvs": "XP_011521358.1:p.Val2001Ile", "hgvsWellDefined": "XP_011521358.1:p.Val2001Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS090196" }, { "coordinates": [ { "allele": "A", "end": 6603, "referenceAllele": "G", "start": 6602 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523057.1:c.6130G>A" ], "proteinEffect": { "hgvs": "XP_011521359.1:p.Val2044Ile", "hgvsWellDefined": "XP_011521359.1:p.Val2044Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS090197" }, { "coordinates": [ { "allele": "A", "end": 6652, "referenceAllele": "G", "start": 6651 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523051.3:c.6130G>A" ], "proteinEffect": { "hgvs": "XP_011521353.1:p.Val2044Ile", "hgvsWellDefined": "XP_011521353.1:p.Val2044Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS546876" }, { "coordinates": [ { "allele": "A", "end": 6757, "referenceAllele": "G", "start": 6756 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523053.2:c.6130G>A" ], "proteinEffect": { "hgvs": "XP_011521355.1:p.Val2044Ile", "hgvsWellDefined": "XP_011521355.1:p.Val2044Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS546877" }, { "coordinates": [ { "allele": "A", "end": 6671, "referenceAllele": "G", "start": 6670 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523054.2:c.6028G>A" ], "proteinEffect": { "hgvs": "XP_011521356.1:p.Val2010Ile", "hgvsWellDefined": "XP_011521356.1:p.Val2010Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS546878" }, { "coordinates": [ { "allele": "A", "end": 6956, "referenceAllele": "G", "start": 6955 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523055.2:c.6028G>A" ], "proteinEffect": { "hgvs": "XP_011521357.1:p.Val2010Ile", "hgvsWellDefined": "XP_011521357.1:p.Val2010Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS546879" }, { "coordinates": [ { "allele": "A", "end": 6693, "referenceAllele": "G", "start": 6692 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523056.2:c.6001G>A" ], "proteinEffect": { "hgvs": "XP_011521358.1:p.Val2001Ile", "hgvsWellDefined": "XP_011521358.1:p.Val2001Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS546880" }, { "coordinates": [ { "allele": "A", "end": 6574, "referenceAllele": "G", "start": 6573 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523057.2:c.6130G>A" ], "proteinEffect": { "hgvs": "XP_011521359.1:p.Val2044Ile", "hgvsWellDefined": "XP_011521359.1:p.Val2044Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS546881" }, { "coordinates": [ { "allele": "A", "end": 7138, "referenceAllele": "G", "start": 7137 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023182.2:c.6130G>A" ], "proteinEffect": { "hgvs": "XP_016878671.1:p.Val2044Ile", "hgvsWellDefined": "XP_016878671.1:p.Val2044Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS573985" }, { "coordinates": [ { "allele": "A", "end": 6760, "referenceAllele": "G", "start": 6759 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023183.1:c.6130G>A" ], "proteinEffect": { "hgvs": "XP_016878672.1:p.Val2044Ile", "hgvsWellDefined": "XP_016878672.1:p.Val2044Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS573986" }, { "coordinates": [ { "allele": "A", "end": 6757, "referenceAllele": "G", "start": 6756 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023184.1:c.6130G>A" ], "proteinEffect": { "hgvs": "XP_016878673.1:p.Val2044Ile", "hgvsWellDefined": "XP_016878673.1:p.Val2044Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS573987" }, { "coordinates": [ { "allele": "A", "end": 6398, "referenceAllele": "G", "start": 6397 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023185.1:c.6130G>A" ], "proteinEffect": { "hgvs": "XP_016878674.1:p.Val2044Ile", "hgvsWellDefined": "XP_016878674.1:p.Val2044Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS573988" }, { "coordinates": [ { "allele": "A", "end": 7134, "referenceAllele": "G", "start": 7133 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023186.1:c.6130G>A" ], "proteinEffect": { "hgvs": "XP_016878675.1:p.Val2044Ile", "hgvsWellDefined": "XP_016878675.1:p.Val2044Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS573989" }, { "coordinates": [ { "allele": "A", "end": 6486, "referenceAllele": "G", "start": 6485 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023187.1:c.6130G>A" ], "proteinEffect": { "hgvs": "XP_016878676.1:p.Val2044Ile", "hgvsWellDefined": "XP_016878676.1:p.Val2044Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS573990" }, { "coordinates": [ { "allele": "A", "end": 6668, "referenceAllele": "G", "start": 6667 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_024450244.1:c.6028G>A" ], "proteinEffect": { "hgvs": "XP_024306012.1:p.Val2010Ile", "hgvsWellDefined": "XP_024306012.1:p.Val2010Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS583785" }, { "@id": "http://reg.genome.network/allele/PA1139725550", "coordinates": [ { "allele": "A", "end": 6591, "referenceAllele": "G", "start": 6590 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_013275.6:c.6130G>A" ], "proteinEffect": { "hgvs": "NP_037407.4:p.Val2044Ile", "hgvsWellDefined": "NP_037407.4:p.Val2044Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS668098", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000301030.10:c.6130G>A" }, "RefSeq": { "hgvs": "NM_013275.6:c.6130G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301030.4:p.Val2044Ile" }, "RefSeq": { "hgvs": "NP_037407.4:p.Val2044Ile" } } } }, { "@id": "http://reg.genome.network/allele/PA2826374225", "coordinates": [ { "allele": "A", "end": 6662, "referenceAllele": "G", "start": 6661 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256182.2:c.6130G>A" ], "proteinEffect": { "hgvs": "NP_001243111.1:p.Val2044Ile", "hgvsWellDefined": "NP_001243111.1:p.Val2044Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS680509" }, { "@id": "http://reg.genome.network/allele/PA2826376085", "coordinates": [ { "allele": "A", "end": 6588, "referenceAllele": "G", "start": 6587 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256183.2:c.6130G>A" ], "proteinEffect": { "hgvs": "NP_001243112.1:p.Val2044Ile", "hgvsWellDefined": "NP_001243112.1:p.Val2044Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS680510" } ], "type": "nucleotide" }