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:
1064343
ClinVar RCV Id:
RCV001374298
ClinVar Variation Id:
2498837
ClinVar RCV Id:
RCV003223046
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001189364.1:p.Phe1220Leu |
CA349055932
NM_001202435.3:c.3660T>G
CA349055935
NM_001202435.3:c.3660T>A
CA349055945
NM_001202435.3:c.3658T>C
|