ClinGen Allele Registry
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Canonical Allele Identifier:
CA309471870
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr19:g.54288907C>G
Linked Data - Sequence & Population
gnomAD v3:
19:54288907 C / G
gnomAD v4:
chr19-54288907-C-G
Joint Max Group AF
0.8082784 (AFR)
Genomes Max Group AF
0.80826915 (AFR)
Exomes Max Group AF
0.50979369 (NFE)
Linked Data - NCBI & NCI
dbSNP:
386000
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.54288907C>G , CM000681.2:g.54288907C>G
GRCh38
Search 100 bp 5'
Search 100 bp 3'