ClinGen Allele Registry
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Canonical Allele Identifier:
CA21588458
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr1:g.43130713G>A
GRCh37
chr1:g.43596384G>A
Linked Data - Sequence & Population
gnomAD v2:
1:43596384 G / A
gnomAD v3:
1:43130713 G / A
gnomAD v4:
chr1-43130713-G-A
Joint Max Group AF
0.16180336 (AFR)
Genomes Max Group AF
0.16180336 (AFR)
Linked Data - NCBI & NCI
dbSNP:
16830359
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.43130713G>A , CM000663.2:g.43130713G>A
GRCh38
NC_000001.10:g.43596384G>A , CM000663.1:g.43596384G>A
GRCh37
NC_000001.9:g.43368971G>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'