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:
14126
ClinVar RCV Id:
RCV000472129
RCV000514633
RCV000656213
RCV001618213
RCV002381250
RCV000015186
RCV000015187
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_000248.2:p.Arg243His |
CA016701
NM_000257.4:c.728G>A
|