ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA185510904
Gene:
Linked Data
dbSNP Id:
rs140473930
gnomAD v2:
8-126490930-C-T
gnomAD v3:
8-125478688-C-T
gnomAD v4:
8-125478688-C-T
MyVariant Identifiers:
chr8:g.126490930C>T (hg19)
chr8:g.126490930_126490931delinsTG (hg19)
chr8:g.125478688C>T (hg38)
chr8:g.125478688_125478689delinsTG (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.125478688C>T , CM000670.2:g.125478688C>T
GRCh38
NC_000008.10:g.126490930C>T , CM000670.1:g.126490930C>T
GRCh37
NC_000008.9:g.126560112C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_928628.1:n.256+5374C>T
Search 100 bp 5'
Search 100 bp 3'