ClinGen Allele Registry
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Canonical Allele Identifier:
CA11523366
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr3:g.187931631T>C
GRCh37
chr3:g.187649419T>C
Linked Data - Sequence & Population
gnomAD v2:
3:187649419 T / C
gnomAD v3:
3:187931631 T / C
gnomAD v4:
chr3-187931631-T-C
Joint Max Group AF
0.28861405 (AFR)
Genomes Max Group AF
0.28861405 (AFR)
Linked Data - NCBI & NCI
dbSNP:
6773854
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.187931631T>C , CM000665.2:g.187931631T>C
GRCh38
NC_000003.11:g.187649419T>C , CM000665.1:g.187649419T>C
GRCh37
NC_000003.10:g.189132113T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_924814.1:n.1283A>G
Search 100 bp 5'
Search 100 bp 3'