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:
531831
ClinVar RCV Id:
RCV000638366
RCV000765185
RCV001117719
RCV000787890
RCV001117718
RCV003928075
RCV002533215
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_653197.2:p.Arg443Trp |
CA7302713
NM_144596.4:c.1327C>T
|