ClinGen Allele Registry
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Canonical Allele Identifier:
CA317824454
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr21:g.14472734A>C
GRCh37
chr21:g.15845055A>C
Linked Data - Sequence & Population
gnomAD v3:
21:14472734 A / C
gnomAD v4:
chr21-14472734-A-C
Joint Max Group AF
0.00000489 (NFE)
Genomes Max Group AF
0.00000489 (NFE)
Linked Data - NCBI & NCI
dbSNP:
937576436
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.14472734A>C , CM000683.2:g.14472734A>C
GRCh38
NC_000021.8:g.15845055A>C , CM000683.1:g.15845055A>C
GRCh37
NC_000021.7:g.14766926A>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'