ClinGen Allele Registry
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Canonical Allele Identifier:
CA14221123
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr16:g.56956804C>A
GRCh37
chr16:g.56990716C>A
Linked Data - Sequence & Population
gnomAD v2:
16:56990716 C / A
gnomAD v3:
16:56956804 C / A
gnomAD v4:
chr16-56956804-C-A
Joint Max Group AF
0.3213267 (SAS)
Genomes Max Group AF
0.3213267 (SAS)
Linked Data - NCBI & NCI
dbSNP:
247617
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.56956804C>A , CM000678.2:g.56956804C>A
GRCh38
NC_000016.9:g.56990716C>A , CM000678.1:g.56990716C>A
GRCh37
NC_000016.8:g.55548217C>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'