ClinGen Allele Registry
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Canonical Allele Identifier:
CA311472812
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr20:g.6786488C>A
GRCh37
chr20:g.6767135C>A
Linked Data - Sequence & Population
gnomAD v2:
20:6767135 C / A
gnomAD v3:
20:6786488 C / A
gnomAD v4:
chr20-6786488-C-A
Joint Max Group AF
0.00257844 (AFR)
Genomes Max Group AF
0.00257844 (AFR)
Linked Data - NCBI & NCI
dbSNP:
547664066
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.6786488C>A , CM000682.2:g.6786488C>A
GRCh38
NC_000020.10:g.6767135C>A , CM000682.1:g.6767135C>A
GRCh37
NC_000020.9:g.6715135C>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'