ClinGen Allele Registry
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Canonical Allele Identifier:
CA14340556
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr16:g.82485623C>T
GRCh37
chr16:g.82519228C>T
Linked Data - Sequence & Population
gnomAD v2:
16:82519228 C / T
gnomAD v3:
16:82485623 C / T
gnomAD v4:
chr16-82485623-C-T
Joint Max Group AF
0.89928705 (SAS)
Genomes Max Group AF
0.89928705 (SAS)
Linked Data - NCBI & NCI
dbSNP:
1991867
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.82485623C>T , CM000678.2:g.82485623C>T
GRCh38
NC_000016.9:g.82519228C>T , CM000678.1:g.82519228C>T
GRCh37
NC_000016.8:g.81076729C>T
NCBI36
Search 100 bp 5'
Search 100 bp 3'