ClinGen Allele Registry
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Canonical Allele Identifier:
CA12787686
Gene:
Linked Data
ClinVar RCV:
RCV001687600
ClinVar Variation:
1276408
dbSNP:
1002149
gnomAD v2:
8:30585738 G / T
gnomAD v3:
8:30728221 G / T
gnomAD v4:
chr8-30728221-G-T
Joint Max Group AF
0.28536531 (SAS)
Genomes Max Group AF
0.28536531 (SAS)
MyVariant.info:
GRCh38
chr8:g.30728221G>T
GRCh37
chr8:g.30585738G>T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.30728221G>T , CM000670.2:g.30728221G>T
GRCh38
NC_000008.10:g.30585738G>T , CM000670.1:g.30585738G>T
GRCh37
NC_000008.9:g.30705280G>T
NCBI36
NG_027719.1:g.4749C>A
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