ClinGen Allele Registry
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Canonical Allele Identifier:
CA116349027
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.28340113A>T
GRCh37
chr5:g.28340220A>T
Linked Data - Sequence & Population
gnomAD v3:
5:28340113 A / T
gnomAD v4:
chr5-28340113-A-T
Joint Max Group AF
0.00001171 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Linked Data - NCBI & NCI
dbSNP:
898497767
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.28340113A>T , CM000667.2:g.28340113A>T
GRCh38
NC_000005.9:g.28340220A>T , CM000667.1:g.28340220A>T
GRCh37
NC_000005.8:g.28375977A>T
NCBI36
Search 100 bp 5'
Search 100 bp 3'