ClinGen Allele Registry
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Canonical Allele Identifier:
CA126705
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr7:g.100719675C>A
GRCh37
chr7:g.100317298C>A
Linked Data - Sequence & Population
gnomAD v2:
7:100317298 C / A
gnomAD v3:
7:100719675 C / A
gnomAD v4:
chr7-100719675-C-A
Joint Max Group AF
0.78429968 (EAS)
Genomes Max Group AF
0.78429968 (EAS)
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000018073
ClinVar Variation:
16602
dbSNP:
1617640
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.100719675C>A , CM000669.2:g.100719675C>A
GRCh38
NC_000007.13:g.100317298C>A , CM000669.1:g.100317298C>A
GRCh37
NC_000007.12:g.100155234C>A
NCBI36
NG_021471.1:g.3876C>A
NG_021471.2:g.3876C>A
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