ClinGen Allele Registry
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Canonical Allele Identifier:
CA301531235
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr18:g.60382423T>C
GRCh37
chr18:g.58049656T>C
Linked Data - Sequence & Population
gnomAD v2:
18:58049656 T / C
gnomAD v3:
18:60382423 T / C
gnomAD v4:
chr18-60382423-T-C
Joint Max Group AF
0.5236639 (AFR)
Genomes Max Group AF
0.5236639 (AFR)
Linked Data - NCBI & NCI
dbSNP:
17066856
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.60382423T>C , CM000680.2:g.60382423T>C
GRCh38
NC_000018.9:g.58049656T>C , CM000680.1:g.58049656T>C
GRCh37
NC_000018.8:g.56200636T>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'