ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA832742580
Gene:
Linked Data
dbSNP Id:
rs1429005117
gnomAD v3:
7-124306498-G-A
gnomAD v4:
7-124306498-G-A
MyVariant Identifiers:
chr7:g.123946552G>A (hg19)
chr7:g.124306498G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.124306498G>A , CM000669.2:g.124306498G>A
GRCh38
NC_000007.13:g.123946552G>A , CM000669.1:g.123946552G>A
GRCh37
NC_000007.12:g.123733788G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_002956584.1:n.93G>A
Search 100 bp 5'
Search 100 bp 3'