ClinGen Allele Registry
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Canonical Allele Identifier:
CA120548705
Gene:
Linked Data - Expert Curation
COSMIC:
COSN17148805 (not active)
COSN25566099 (not active)
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.67537429G>A
GRCh37
chr5:g.66833257G>A
Linked Data - Sequence & Population
gnomAD v2:
5:66833257 G / A
gnomAD v3:
5:67537429 G / A
gnomAD v4:
chr5-67537429-G-A
Joint Max Group AF
0.49059846 (EAS)
Genomes Max Group AF
0.49059846 (EAS)
Linked Data - NCBI & NCI
dbSNP:
7717572
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.67537429G>A , CM000667.2:g.67537429G>A
GRCh38
NC_000005.9:g.66833257G>A , CM000667.1:g.66833257G>A
GRCh37
NC_000005.8:g.66869013G>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'