ClinGen Allele Registry
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Canonical Allele Identifier:
CA11866372
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr4:g.122456825A>C
GRCh37
chr4:g.123377980A>C
Linked Data - Sequence & Population
gnomAD v2:
4:123377980 A / C
gnomAD v3:
4:122456825 A / C
gnomAD v4:
chr4-122456825-A-C
Joint Max Group AF
0.49043848 (SAS)
Genomes Max Group AF
0.48887626 (SAS)
Exomes Max Group AF
0.4613802 (SAS)
Linked Data - NCBI & NCI
dbSNP:
2069762
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.122456825A>C , CM000666.2:g.122456825A>C
GRCh38
NC_000004.11:g.123377980A>C , CM000666.1:g.123377980A>C
GRCh37
NC_000004.10:g.123597430A>C
NCBI36
NG_016779.1:g.4671T>G
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