ClinGen Allele Registry
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Canonical Allele Identifier:
CA329837874
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrX:g.51486838G>C
GRCh37
chrX:g.51229690G>C
Linked Data - Sequence & Population
gnomAD v3:
X:51486838 G / C
gnomAD v4:
chrX-51486838-G-C
Joint Max Group AF
0.00001077 (AFR)
Genomes Max Group AF
0.00001077 (AFR)
Linked Data - NCBI & NCI
dbSNP:
190444065
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.51486838G>C , CM000685.2:g.51486838G>C
GRCh38
NC_000023.10:g.51229690G>C , CM000685.1:g.51229690G>C
GRCh37
NC_000023.9:g.51246430G>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'