ClinGen Allele Registry
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Canonical Allele Identifier:
CA12001208
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr5:g.57918990A>C
GRCh37
chr5:g.57214817A>C
Linked Data - Sequence & Population
gnomAD v2:
5:57214817 A / C
gnomAD v3:
5:57918990 A / C
gnomAD v4:
chr5-57918990-A-C
Joint Max Group AF
0.27293559 (NFE)
Genomes Max Group AF
0.27293559 (NFE)
Linked Data - NCBI & NCI
dbSNP:
10041935
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.57918990A>C , CM000667.2:g.57918990A>C
GRCh38
NC_000005.9:g.57214817A>C , CM000667.1:g.57214817A>C
GRCh37
NC_000005.8:g.57250574A>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'