OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
Canonical Allele Identifier:
CA561890093
Gene:
Linked Data
ClinVar Variation Id:
1045460
ClinVar RCV Id:
RCV003538721
dbSNP Id:
rs1343144964
gnomAD v2:
5-112043126-C-T
gnomAD v3:
5-112707429-C-T
gnomAD v4:
5-112707429-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112707429C>T , CM000667.2:g.112707429C>T | GRCh38 |
| NC_000005.9:g.112043126C>T , CM000667.1:g.112043126C>T | GRCh37 |
| NC_000005.8:g.112071025C>T | NCBI36 |
| NG_008481.4:g.19909C>T , LRG_130:g.19909C>T |