SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.
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.
This migration is underway but taking longer than originally estimated.
Linked Data
ClinVar Variation Id:
1369095
ClinVar RCV Id:
RCV001867827
ClinVar Variation Id:
2936693
ClinVar RCV Id:
RCV003798931
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_338599.1:p.Phe131Leu |
CA2376647
NM_033629.6:c.393C>G
CA352618015
NM_033629.6:c.391T>C
CA352618019
NM_033629.6:c.393C>A
|