ClinGen Allele Registry
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Canonical Allele Identifier:
CA127769004
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr5:g.130760567A>G
GRCh37
chr5:g.130096260A>G
Linked Data - Sequence & Population
gnomAD v2:
5:130096260 A / G
gnomAD v3:
5:130760567 A / G
gnomAD v4:
chr5-130760567-A-G
Joint Max Group AF
0.42209553 (EAS)
Genomes Max Group AF
0.42209553 (EAS)
Linked Data - NCBI & NCI
dbSNP:
12518350
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.130760567A>G , CM000667.2:g.130760567A>G
GRCh38
NC_000005.9:g.130096260A>G , CM000667.1:g.130096260A>G
GRCh37
NC_000005.8:g.130124159A>G
NCBI36
Search 100 bp 5'
Search 100 bp 3'