ClinGen Allele Registry
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Canonical Allele Identifier:
CA14830598
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr20:g.54920285C>A
GRCh37
chr20:g.53536824C>A
Linked Data - Sequence & Population
gnomAD v2:
20:53536824 C / A
gnomAD v3:
20:54920285 C / A
gnomAD v4:
chr20-54920285-C-A
Joint Max Group AF
0.22011356 (NFE)
Genomes Max Group AF
0.22011356 (NFE)
Linked Data - NCBI & NCI
dbSNP:
283277
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.54920285C>A , CM000682.2:g.54920285C>A
GRCh38
NC_000020.10:g.53536824C>A , CM000682.1:g.53536824C>A
GRCh37
NC_000020.9:g.52970231C>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'