ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA577662570
Gene:
Linked Data
dbSNP Id:
rs1285966232
gnomAD v2:
7-123946482-A-G
gnomAD v3:
7-124306428-A-G
gnomAD v4:
7-124306428-A-G
MyVariant Identifiers:
chr7:g.123946482A>G (hg19)
chr7:g.124306428A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.124306428A>G , CM000669.2:g.124306428A>G
GRCh38
NC_000007.13:g.123946482A>G , CM000669.1:g.123946482A>G
GRCh37
NC_000007.12:g.123733718A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_002956584.1:n.73-50A>G
Search 100 bp 5'
Search 100 bp 3'