ClinGen Allele Registry
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Canonical Allele Identifier:
CA747163381
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr21:g.14472709G>A
GRCh37
chr21:g.15845030G>A
Linked Data - Sequence & Population
gnomAD v3:
21:14472709 G / A
gnomAD v4:
chr21-14472709-G-A
Joint Max Group AF
0.00003261 (AFR)
Genomes Max Group AF
0.00003261 (AFR)
Linked Data - NCBI & NCI
dbSNP:
1481845547
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.14472709G>A , CM000683.2:g.14472709G>A
GRCh38
NC_000021.8:g.15845030G>A , CM000683.1:g.15845030G>A
GRCh37
NC_000021.7:g.14766901G>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'