ClinGen Allele Registry
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Canonical Allele Identifier:
CA318543561
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr21:g.20405418T>C
GRCh37
chr21:g.21777730T>C
Linked Data - Sequence & Population
gnomAD v2:
21:21777730 T / C
gnomAD v3:
21:20405418 T / C
gnomAD v4:
chr21-20405418-T-C
Joint Max Group AF
0.74914253 (EAS)
Genomes Max Group AF
0.74914253 (EAS)
Linked Data - NCBI & NCI
dbSNP:
1888414
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.20405418T>C , CM000683.2:g.20405418T>C
GRCh38
NC_000021.8:g.21777730T>C , CM000683.1:g.21777730T>C
GRCh37
NC_000021.7:g.20699601T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'