ClinGen Allele Registry
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Canonical Allele Identifier:
CA124378744
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.104872351C>G
GRCh37
chr5:g.104208052C>G
Linked Data - Sequence & Population
gnomAD v3:
5:104872351 C / G
gnomAD v4:
chr5-104872351-C-G
Joint Max Group AF
0.00001972 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Linked Data - NCBI & NCI
dbSNP:
892742007
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.104872351C>G , CM000667.2:g.104872351C>G
GRCh38
NC_000005.9:g.104208052C>G , CM000667.1:g.104208052C>G
GRCh37
NC_000005.8:g.104235951C>G
NCBI36
Search 100 bp 5'
Search 100 bp 3'