ClinGen Allele Registry
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Canonical Allele Identifier:
CA40828121
Gene:
Linked Data
dbSNP Id:
rs1042063466
gnomAD v2:
1-248496929-G-T
gnomAD v3:
1-248333627-G-T
gnomAD v4:
1-248333627-G-T
MyVariant Identifiers:
chr1:g.248496929G>T (hg19)
chr1:g.248333627G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.248333627G>T , CM000663.2:g.248333627G>T
GRCh38
NC_000001.10:g.248496929G>T , CM000663.1:g.248496929G>T
GRCh37
NC_000001.9:g.246563552G>T
NCBI36
Search 100 bp 5'
Search 100 bp 3'