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:
1517462
ClinVar RCV Id:
RCV002041091
ClinVar Variation Id:
2739252
ClinVar RCV Id:
RCV003506658
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001155898.1:p.His226Gln |
CA375371469
NM_001162426.2:c.678T>G
CA375371471
NM_001162426.2:c.678T>A
|