ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA585052436
Gene:
Linked Data
dbSNP Id:
rs1211099868
gnomAD v2:
8-128011988-G-A
gnomAD v3:
8-126999743-G-A
gnomAD v4:
8-126999743-G-A
MyVariant Identifiers:
chr8:g.128011988G>A (hg19)
chr8:g.126999743G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.126999743G>A , CM000670.2:g.126999743G>A
GRCh38
NC_000008.10:g.128011988G>A , CM000670.1:g.128011988G>A
GRCh37
NC_000008.9:g.128081170G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001746076.2:n.1301-6812G>A
Search 100 bp 5'
Search 100 bp 3'