ClinGen Allele Registry
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Canonical Allele Identifier:
CA126705
Gene:
Linked Data
ClinVar Variation Id:
16602
ClinVar RCV Id:
RCV000018073
dbSNP Id:
rs1617640
gnomAD v2:
7-100317298-C-A
gnomAD v3:
7-100719675-C-A
gnomAD v4:
7-100719675-C-A
MyVariant Identifiers:
chr7:g.100317298C>A (hg19)
chr7:g.100719675C>A (hg38)
PubMed:
PMID:18458324
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.100719675C>A , CM000669.2:g.100719675C>A
GRCh38
NC_000007.13:g.100317298C>A , CM000669.1:g.100317298C>A
GRCh37
NC_000007.12:g.100155234C>A
NCBI36
NG_021471.1:g.3876C>A
NG_021471.2:g.3876C>A
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