ClinGen Allele Registry
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Canonical Allele Identifier:
CA11991002
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr5:g.177357511G>A
GRCh37
chr5:g.176784512G>A
Linked Data - Sequence & Population
gnomAD v2:
5:176784512 G / A
gnomAD v3:
5:177357511 G / A
gnomAD v4:
chr5-177357511-G-A
Joint Max Group AF
0.26801835 (NFE)
Genomes Max Group AF
0.26801835 (NFE)
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001621874
ClinVar Variation:
1235110
dbSNP:
4075958
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.177357511G>A , CM000667.2:g.177357511G>A
GRCh38
NC_000005.9:g.176784512G>A , CM000667.1:g.176784512G>A
GRCh37
NC_000005.8:g.176717118G>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'