ClinGen Allele Registry
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Canonical Allele Identifier:
CA804020700
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr5:g.132672952T>A
GRCh37
chr5:g.132008644T>A
Linked Data - Sequence & Population
gnomAD v3:
5:132672952 T / A
gnomAD v4:
chr5-132672952-T-A
Joint Max Group AF
0.00003256 (AFR)
Genomes Max Group AF
0.00003256 (AFR)
Linked Data - NCBI & NCI
dbSNP:
2243248
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.132672952T>A , CM000667.2:g.132672952T>A
GRCh38
NC_000005.9:g.132008644T>A , CM000667.1:g.132008644T>A
GRCh37
NC_000005.8:g.132036543T>A
NCBI36
NG_023252.1:g.4272T>A
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