ClinGen Allele Registry
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Canonical Allele Identifier:
CA113505985
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.4196394G>A
GRCh37
chr5:g.4196507G>A
Linked Data - Sequence & Population
gnomAD v2:
5:4196507 G / A
gnomAD v3:
5:4196394 G / A
gnomAD v4:
chr5-4196394-G-A
Joint Max Group AF
0.00018471 (AFR)
Genomes Max Group AF
0.00018471 (AFR)
Linked Data - NCBI & NCI
dbSNP:
190373770
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.4196394G>A , CM000667.2:g.4196394G>A
GRCh38
NC_000005.9:g.4196507G>A , CM000667.1:g.4196507G>A
GRCh37
NC_000005.8:g.4249507G>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'