ClinGen Allele Registry
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Canonical Allele Identifier:
CA319925638
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr21:g.30013925G>A
GRCh37
chr21:g.31386243G>A
Linked Data - Sequence & Population
gnomAD v2:
21:31386243 G / A
gnomAD v3:
21:30013925 G / A
gnomAD v4:
chr21-30013925-G-A
Joint Max Group AF
0.81896326 (NFE)
Genomes Max Group AF
0.81896326 (NFE)
Linked Data - NCBI & NCI
dbSNP:
9305406
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.30013925G>A , CM000683.2:g.30013925G>A
GRCh38
NC_000021.8:g.31386243G>A , CM000683.1:g.31386243G>A
GRCh37
NC_000021.7:g.30308114G>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'