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_001333829.1:p.Pro719_Cys722dup |
CA2714508311
NM_001346900.1:c.2162_2163insCTGCCCCCACGT
CA2714511592
NM_001346900.1:c.2153_2154insTCCCCACGTGTG
CA2714933147
NM_001346900.1:c.2156_2157insGCACGTGTGCCC
CA2714933150
NM_001346900.1:c.2156_2157insTCACGTGTGCCC
CA2714933161
NM_001346900.1:c.2156_2167dup
CA2714933270
NM_001346900.1:c.2159_2160insTGTGTGCCCCCA
CA2714933417
NM_001346900.1:c.2156_2157insACACGTGTGCCC
CA2714933500
NM_001346900.1:c.2156_2157insACACGTCTGCCC
CA2714933663
NM_001346900.1:c.2165_2166insTCCCCACGTGTG
CA2714933714
NM_001346900.1:c.2167_2168insCGCACGTGTGCC
CA2714933715
NM_001346900.1:c.2167_2168insCACACGTGTGCC
CA2714934246
NM_001346900.1:c.2167_2168insCTCACGTGTGCC
CA2714935210
NM_001346900.1:c.2167_2168insCCCACGTGTGTC
|