ClinGen Allele Registry
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Canonical Allele Identifier:
CA247660091
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr13:g.28510867A>C
GRCh37
chr13:g.29085004A>C
Linked Data - Sequence & Population
gnomAD v2:
13:29085004 A / C
gnomAD v3:
13:28510867 A / C
gnomAD v4:
chr13-28510867-A-C
Joint Max Group AF
0.85724433 (EAS)
Genomes Max Group AF
0.85724433 (EAS)
Linked Data - NCBI & NCI
dbSNP:
4462445
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.28510867A>C , CM000675.2:g.28510867A>C
GRCh38
NC_000013.10:g.29085004A>C , CM000675.1:g.29085004A>C
GRCh37
NC_000013.9:g.27983004A>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'