ClinGen Allele Registry
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Canonical Allele Identifier:
CA14762583
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr20:g.57454548T>C
GRCh37
chr20:g.56029604T>C
Linked Data - Sequence & Population
gnomAD v2:
20:56029604 T / C
gnomAD v3:
20:57454548 T / C
gnomAD v4:
chr20-57454548-T-C
Joint Max Group AF
0.97091736 (EAS)
Genomes Max Group AF
0.97091736 (EAS)
Linked Data - NCBI & NCI
dbSNP:
328506
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.57454548T>C , CM000682.2:g.57454548T>C
GRCh38
NC_000020.10:g.56029604T>C , CM000682.1:g.56029604T>C
GRCh37
NC_000020.9:g.55463010T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'