ClinGen Allele Registry
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Canonical Allele Identifier:
CA529786697
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr1:g.228862115del
GRCh37
chr1:g.228997862del
Linked Data - Sequence & Population
gnomAD v2:
1:228997861 GA / G
gnomAD v3:
1:228862114 GA / G
gnomAD v4:
chr1-228862114-GA-G
Joint Max Group AF
0.00053895 (AFR)
Genomes Max Group AF
0.00053895 (AFR)
Linked Data - NCBI & NCI
dbSNP:
1293992941
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.228862115del , CM000663.2:g.228862115del
GRCh38
NC_000001.10:g.228997862del , CM000663.1:g.228997862del
GRCh37
NC_000001.9:g.227064485del
NCBI36
Search 100 bp 5'
Search 100 bp 3'