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:
435186
ClinVar RCV Id:
RCV000503695
ClinVar Variation Id:
2573738
ClinVar RCV Id:
RCV003318074
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_149354.1:p.Ser76Arg |
CA377836740
NM_033164.4:c.228C>G
CA377836741
NM_033164.4:c.228C>A
CA377836756
NM_033164.4:c.226A>C
|