SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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.
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.
Linked Data
ClinVar Variation Id:
1023630
ClinVar RCV Id:
RCV001323711
ClinVar Variation Id:
2566469
ClinVar RCV Id:
RCV003306574
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001341652.1:p.Phe76Leu |
CA351749223
NM_001354723.2:c.226T>C
CA351749248
NM_001354723.2:c.228C>G
CA351749261
NM_001354723.2:c.228C>A
|