ClinGen Allele Registry
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Canonical Allele Identifier:
CA47858129
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr2:g.53275637A>C
GRCh37
chr2:g.53502775A>C
Linked Data - Sequence & Population
gnomAD v2:
2:53502775 A / C
gnomAD v3:
2:53275637 A / C
gnomAD v4:
chr2-53275637-A-C
Joint Max Group AF
0.00723384 (NFE)
Genomes Max Group AF
0.00723384 (NFE)
Linked Data - NCBI & NCI
dbSNP:
996712
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.53275637A>C , CM000664.2:g.53275637A>C
GRCh38
NC_000002.11:g.53502775A>C , CM000664.1:g.53502775A>C
GRCh37
NC_000002.10:g.53356279A>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'