SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Linked Data
ClinVar Variation Id:
801282
ClinVar RCV Id:
RCV000986030
ClinVar Variation Id:
801284
ClinVar RCV Id:
RCV000986032
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_005350.1:p.Pro275Ala |
CA402463389
NM_005359.6:c.823C>G
CA915951532
NM_005359.6:c.822_823delinsCG
|