ClinGen Allele Registry
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Canonical Allele Identifier:
CA12009195
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr5:g.123783871C>A
GRCh37
chr5:g.123119565C>A
Linked Data - Sequence & Population
gnomAD v2:
5:123119565 C / A
gnomAD v3:
5:123783871 C / A
gnomAD v4:
chr5-123783871-C-A
Joint Max Group AF
0.52118746 (EAS)
Genomes Max Group AF
0.52118746 (EAS)
Linked Data - NCBI & NCI
dbSNP:
11241713
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.123783871C>A , CM000667.2:g.123783871C>A
GRCh38
NC_000005.9:g.123119565C>A , CM000667.1:g.123119565C>A
GRCh37
NC_000005.8:g.123147464C>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'