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:
CA1573442295
Gene:
Linked Data
ClinVar Variation Id:
1003220
ClinVar RCV Id:
RCV003153975
dbSNP Id:
rs978748301
gnomAD v4:
5-112707437-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112707437C>T , CM000667.2:g.112707437C>T | GRCh38 |
| NC_000005.9:g.112043134C>T , CM000667.1:g.112043134C>T | GRCh37 |
| NC_000005.8:g.112071033C>T | NCBI36 |
| NG_008481.4:g.19917C>T , LRG_130:g.19917C>T |