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:
1198752
ClinVar RCV Id:
RCV001563014
ClinVar Variation Id:
1327492
ClinVar RCV Id:
RCV001789705
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_005334.1:p.Phe156Leu |
CA378921198
NM_005343.4:c.468C>G
CA378921199
NM_005343.4:c.468C>A
CA378921204
NM_005343.4:c.466T>C
|