ClinGen Allele Registry
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Canonical Allele Identifier:
CA530090463
Gene:
Linked Data
dbSNP Id:
rs1266399824
gnomAD v2:
1-248496743-C-A
gnomAD v3:
1-248333441-C-A
gnomAD v4:
1-248333441-C-A
MyVariant Identifiers:
chr1:g.248496743C>A (hg19)
chr1:g.248333441C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.248333441C>A , CM000663.2:g.248333441C>A
GRCh38
NC_000001.10:g.248496743C>A , CM000663.1:g.248496743C>A
GRCh37
NC_000001.9:g.246563366C>A
NCBI36
Search 100 bp 5'
Search 100 bp 3'