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:
2125367
ClinVar RCV Id:
RCV003049541
ClinVar Variation Id:
2702402
ClinVar RCV Id:
RCV003510559
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001263625.1:p.Phe74Leu |
CA397844490
NM_001276696.3:c.222C>G
CA397844493
NM_001276696.3:c.222C>A
CA397844508
NM_001276696.3:c.220T>C
|