ClinGen Allele Registry
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Canonical Allele Identifier:
CA116349025
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.28340083C>G
GRCh37
chr5:g.28340190C>G
Linked Data - Sequence & Population
gnomAD v3:
5:28340083 C / G
gnomAD v4:
chr5-28340083-C-G
Joint Max Group AF
0.0000684 (EAS)
Genomes Max Group AF
0.0000684 (EAS)
Linked Data - NCBI & NCI
dbSNP:
189198627
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.28340083C>G , CM000667.2:g.28340083C>G
GRCh38
NC_000005.9:g.28340190C>G , CM000667.1:g.28340190C>G
GRCh37
NC_000005.8:g.28375947C>G
NCBI36
Search 100 bp 5'
Search 100 bp 3'