ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA3713873
Gene:
Linked Data
ClinVar Variation Id:
225964
ClinVar RCV Id:
RCV001354056
RCV001807634
RCV001807635
RCV001807636
RCV001807637
RCV001807638
RCV001807639
RCV001807640
RCV001824024
RCV001836755
dbSNP Id:
rs1800629
ExAC:
6:31543031 G / A
gnomAD v2:
6-31543031-G-A
gnomAD v3:
6-31575254-G-A
gnomAD v4:
6-31575254-G-A
MyVariant Identifiers:
chr6:g.31543031G>A (hg19)
chr6:g.31575254G>A (hg38)
PubMed:
PMID:12190096
PMID:12759288
PMID:12847678
PMID:15834068
PMID:16720636
PMID:16909270
PMID:17343250
PMID:17673491
PMID:18050183
PMID:18438841
PMID:18713756
PMID:19365401
PMID:22129793
PMID:22760475
PMID:22960943
PMID:22992668
PMID:23057546
PMID:24192118
PMID:26244882
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31575254G>A , CM000668.2:g.31575254G>A
GRCh38
NC_000006.11:g.31543031G>A , CM000668.1:g.31543031G>A
GRCh37
NC_000006.10:g.31651010G>A
NCBI36
NG_007462.1:g.4682G>A
NG_012010.1:g.8156G>A
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