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:
251035
ClinVar RCV Id:
RCV000237363
ClinVar Variation Id:
926432
ClinVar RCV Id:
RCV001189028
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_000518.1:p.Ser49Arg |
CA10584767
NM_000527.5:c.147C>A
CA404074874
NM_000527.5:c.145A>C
CA404074887
NM_000527.5:c.147C>G
|