ClinGen Allele Registry
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Canonical Allele Identifier:
CA12812564
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr8:g.60281611T>G
GRCh37
chr8:g.61194170T>G
Linked Data - Sequence & Population
gnomAD v2:
8:61194170 T / G
gnomAD v3:
8:60281611 T / G
gnomAD v4:
chr8-60281611-T-G
Joint Max Group AF
0.55674209 (AFR)
Genomes Max Group AF
0.55674209 (AFR)
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001679629
ClinVar Variation:
1275390
dbSNP:
10957125
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.60281611T>G , CM000670.2:g.60281611T>G
GRCh38
NC_000008.10:g.61194170T>G , CM000670.1:g.61194170T>G
GRCh37
NC_000008.9:g.61356724T>G
NCBI36
NG_023193.1:g.4785A>C
NG_023193.2:g.4785A>C
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