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:
127288
ClinVar RCV Id:
RCV000120024
RCV000411300
RCV000565031
RCV000985246
RCV000677784
RCV001154639
RCV003534336
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001341833.1:p.Ser1000Arg |
CA008342
NM_001354904.2:c.3000C>G
CA16028729
NM_001354904.2:c.2998A>C
CA16028734
NM_001354904.2:c.3000C>A
|