ClinGen Allele Registry
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Canonical Allele Identifier:
CA248442
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr16:g.56959412C>A
GRCh37
chr16:g.56993324C>A
Linked Data - Sequence & Population
gnomAD v2:
16:56993324 C / A
gnomAD v3:
16:56959412 C / A
gnomAD v4:
chr16-56959412-C-A
Joint Max Group AF
0.32151795 (SAS)
Genomes Max Group AF
0.32151795 (SAS)
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000190313
ClinVar Variation:
162176
dbSNP:
3764261
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.56959412C>A , CM000678.2:g.56959412C>A
GRCh38
NC_000016.9:g.56993324C>A , CM000678.1:g.56993324C>A
GRCh37
NC_000016.8:g.55550825C>A
NCBI36
NG_008952.1:g.2490C>A
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