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:
2234691
ClinVar RCV Id:
RCV002723512
ClinVar Variation Id:
2921140
ClinVar RCV Id:
RCV003740579
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001136336.2:p.Phe2114Leu |
CA397083551
NM_001142864.4:c.6342C>G
CA397083552
NM_001142864.4:c.6342C>A
CA397083564
NM_001142864.4:c.6340T>C
|