ClinGen Allele Registry
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Canonical Allele Identifier:
CA12848176
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr8:g.130479982A>G
GRCh37
chr8:g.131492228A>G
Linked Data - Sequence & Population
gnomAD v2:
8:131492228 A / G
gnomAD v3:
8:130479982 A / G
gnomAD v4:
chr8-130479982-A-G
Joint Max Group AF
0.82260832 (AFR)
Genomes Max Group AF
0.82260832 (AFR)
Linked Data - NCBI & NCI
dbSNP:
4601326
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.130479982A>G , CM000670.2:g.130479982A>G
GRCh38
NC_000008.10:g.131492228A>G , CM000670.1:g.131492228A>G
GRCh37
NC_000008.9:g.131561410A>G
NCBI36
Search 100 bp 5'
Search 100 bp 3'