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:
459265
ClinVar RCV Id:
RCV001824332
ClinVar Variation Id:
1730703
ClinVar RCV Id:
RCV002451712
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_003229.1:p.Phe112Leu |
CA1398406
NM_003238.6:c.336C>G
CA344725808
NM_003238.6:c.334T>C
CA344725813
NM_003238.6:c.336C>A
|