ClinGen Allele Registry
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Canonical Allele Identifier:
CA14030659
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr14:g.54390568G>A
GRCh37
chr14:g.54857286G>A
Linked Data - Sequence & Population
gnomAD v2:
14:54857286 G / A
gnomAD v3:
14:54390568 G / A
gnomAD v4:
chr14-54390568-G-A
Joint Max Group AF
0.28532576 (AFR)
Genomes Max Group AF
0.28532576 (AFR)
Linked Data - NCBI & NCI
dbSNP:
4293296
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.54390568G>A , CM000676.2:g.54390568G>A
GRCh38
NC_000014.8:g.54857286G>A , CM000676.1:g.54857286G>A
GRCh37
NC_000014.7:g.53927036G>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'