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:
954236
ClinVar RCV Id:
RCV001226661
ClinVar Variation Id:
1390312
ClinVar RCV Id:
RCV001917571
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001340694.1:p.Met131Ile |
CA346473037
NM_001353765.2:c.393G>T
CA346473038
NM_001353765.2:c.393G>C
CA346473039
NM_001353765.2:c.393G>A
|