ClinGen Allele Registry
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Canonical Allele Identifier:
CA285753765
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr16:g.86347578C>A
GRCh37
chr16:g.86381184C>A
Linked Data - Sequence & Population
gnomAD v3:
16:86347578 C / A
gnomAD v4:
chr16-86347578-C-A
Joint Max Group AF
0.00001969 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Linked Data - NCBI & NCI
dbSNP:
11641231
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.86347578C>A , CM000678.2:g.86347578C>A
GRCh38
NC_000016.9:g.86381184C>A , CM000678.1:g.86381184C>A
GRCh37
NC_000016.8:g.84938685C>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'