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:
1792962
ClinVar RCV Id:
RCV002433310
ClinVar Variation Id:
2672538
ClinVar RCV Id:
RCV003456845
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_000050.3:p.Phe851Leu |
CA387772524
NM_000059.4:c.2551T>C
CA387772529
NM_000059.4:c.2553C>A
CA387772530
NM_000059.4:c.2553C>G
|