ClinGen Allele Registry
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Canonical Allele Identifier:
CA248443
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr19:g.44919689A>G
GRCh37
chr19:g.45422946A>G
Linked Data - Sequence & Population
gnomAD v2:
19:45422946 A / G
gnomAD v3:
19:44919689 A / G
gnomAD v4:
chr19-44919689-A-G
Joint Max Group AF
0.20030587 (AFR)
Genomes Max Group AF
0.20030587 (AFR)
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000190314
ClinVar Variation:
162177
dbSNP:
4420638
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.44919689A>G , CM000681.2:g.44919689A>G
GRCh38
NC_000019.9:g.45422946A>G , CM000681.1:g.45422946A>G
GRCh37
NC_000019.8:g.50114786A>G
NCBI36
NG_012859.1:g.10026A>G
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