ClinGen Allele Registry
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Canonical Allele Identifier:
CA116301702
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.27957331G>A
GRCh37
chr5:g.27957438G>A
Linked Data - Sequence & Population
gnomAD v2:
5:27957438 G / A
gnomAD v3:
5:27957331 G / A
gnomAD v4:
chr5-27957331-G-A
Joint Max Group AF
0.40983691 (EAS)
Genomes Max Group AF
0.40983691 (EAS)
Linked Data - NCBI & NCI
dbSNP:
389719
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.27957331G>A , CM000667.2:g.27957331G>A
GRCh38
NC_000005.9:g.27957438G>A , CM000667.1:g.27957438G>A
GRCh37
NC_000005.8:g.27993195G>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'