ClinGen Allele Registry
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Canonical Allele Identifier:
CA114599
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr6:g.31593133C>G
GRCh37
chr6:g.31560910C>G
Linked Data - Sequence & Population
gnomAD v2:
6:31560910 C / G
gnomAD v3:
6:31593133 C / G
gnomAD v4:
chr6-31593133-C-G
Joint Max Group AF
0.39468956 (EAS)
Genomes Max Group AF
0.39802888 (EAS)
Exomes Max Group AF
0.38714087 (EAS)
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000000924
RCV002466390
ClinVar Variation:
876
dbSNP:
2736191
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31593133C>G , CM000668.2:g.31593133C>G
GRCh38
NC_000006.11:g.31560910C>G , CM000668.1:g.31560910C>G
GRCh37
NC_000006.10:g.31668889C>G
NCBI36
NG_021176.1:g.4853G>C
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