ClinGen Allele Registry
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Canonical Allele Identifier:
CA13709294
Gene:
Linked Data
ClinVar Variation Id:
1264842
ClinVar RCV Id:
RCV001677087
dbSNP Id:
rs1545650
gnomAD v2:
12-53701104-T-C
gnomAD v3:
12-53307320-T-C
gnomAD v4:
12-53307320-T-C
MyVariant Identifiers:
chr12:g.53701104T>C (hg19)
chr12:g.53307320T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.53307320T>C , CM000674.2:g.53307320T>C
GRCh38
NC_000012.11:g.53701104T>C , CM000674.1:g.53701104T>C
GRCh37
NC_000012.10:g.51987371T>C
NCBI36
NG_016775.1:g.19309A>G
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