ClinGen Allele Registry
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Canonical Allele Identifier:
CA530090475
Gene:
Linked Data
dbSNP Id:
rs1199066115
gnomAD v2:
1-248496918-GC-G
gnomAD v3:
1-248333616-GC-G
gnomAD v4:
1-248333616-GC-G
MyVariant Identifiers:
chr1:g.248496919del (hg19)
chr1:g.248333617del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.248333621del , CM000663.2:g.248333621del
GRCh38
NC_000001.10:g.248496923del , CM000663.1:g.248496923del
GRCh37
NC_000001.9:g.246563546del
NCBI36
Search 100 bp 5'
Search 100 bp 3'