ClinGen Allele Registry
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Canonical Allele Identifier:
CA122000
Gene:
Linked Data
ClinVar Variation Id:
12247
ClinVar RCV Id:
RCV000013034
RCV001260567
RCV001610289
dbSNP Id:
rs16260
gnomAD v2:
16-68771034-C-A
gnomAD v3:
16-68737131-C-A
gnomAD v4:
16-68737131-C-A
MyVariant Identifiers:
chr16:g.68771034C>A (hg19)
chr16:g.68737131C>A (hg38)
PubMed:
PMID:14961571
PMID:16189707
ERepo:
CA122000/MONDO:0007648/007
CA122000/MONDO:0100488/007
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.68737131C>A , CM000678.2:g.68737131C>A
GRCh38
NC_000016.9:g.68771034C>A , CM000678.1:g.68771034C>A
GRCh37
NC_000016.8:g.67328535C>A
NCBI36
NG_008021.1:g.4840C>A , LRG_301:g.4840C>A
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