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:
67914
ClinVar RCV Id:
RCV000058695
ClinVar Variation Id:
2702720
ClinVar RCV Id:
RCV003577512
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001153633.1:p.Ser1499Arg |
CA018469
NM_001160161.2:c.4495A>C
CA352143902
NM_001160161.2:c.4497T>G
CA352143903
NM_001160161.2:c.4497T>A
|