ClinGen Allele Registry
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Canonical Allele Identifier:
CA14422360
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr17:g.50203629A>C
GRCh37
chr17:g.48280990A>C
Linked Data - Sequence & Population
gnomAD v2:
17:48280990 A / C
gnomAD v3:
17:50203629 A / C
gnomAD v4:
chr17-50203629-A-C
Joint Max Group AF
0.85506317 (NFE)
Genomes Max Group AF
0.85506317 (NFE)
Linked Data - NCBI & NCI
dbSNP:
1107946
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.50203629A>C , CM000679.2:g.50203629A>C
GRCh38
NC_000017.10:g.48280990A>C , CM000679.1:g.48280990A>C
GRCh37
NC_000017.9:g.45635989A>C
NCBI36
NG_007400.1:g.3011T>G , LRG_1:g.3011T>G
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