ClinGen Allele Registry
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Canonical Allele Identifier:
CA39184718
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr1:g.228862100A>C
GRCh37
chr1:g.228997847A>C
Linked Data - Sequence & Population
gnomAD v3:
1:228862100 A / C
gnomAD v4:
chr1-228862100-A-C
Joint Max Group AF
0.00001919 (AFR)
Genomes Max Group AF
0.00001919 (AFR)
Linked Data - NCBI & NCI
dbSNP:
1006401618
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.228862100A>C , CM000663.2:g.228862100A>C
GRCh38
NC_000001.10:g.228997847A>C , CM000663.1:g.228997847A>C
GRCh37
NC_000001.9:g.227064470A>C
NCBI36
Search 100 bp 5'
Search 100 bp 3'