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
This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
Get Identifier
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001140178.1:p.Leu1482_Ter1483insCysGlnTrpHisGlnArgSerPheValValValPheValCysLeuPheLeuLysSerTyrTyrLeuLeuAlaTrpThrSerGluGlyAlaPheCysLeuSerIleIlePheHisCysGlnPheLeuIleSerSerLeuLeuGluLeuLeuLeuLysGlyTrpPheValLysSerThrProArgCysSerGluValSerCysGlnGlnHisSerCys |
CA414839726
NM_001146706.2:c.4449A>T
CA414839730
NM_001146706.2:c.4449A>C
|