ClinGen Allele Registry
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Canonical Allele Identifier:
CA44578548
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr2:g.28666091C>A
GRCh37
chr2:g.28888957C>A
Linked Data - Sequence & Population
gnomAD v2:
2:28888957 C / A
gnomAD v3:
2:28666091 C / A
gnomAD v4:
chr2-28666091-C-A
Joint Max Group AF
0.00178607 (AFR)
Genomes Max Group AF
0.00178607 (AFR)
Linked Data - NCBI & NCI
dbSNP:
56089836
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.28666091C>A , CM000664.2:g.28666091C>A
GRCh38
NC_000002.11:g.28888957C>A , CM000664.1:g.28888957C>A
GRCh37
NC_000002.10:g.28742461C>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'