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:
207940
ClinVar RCV Id:
RCV000190214
ClinVar Variation Id:
392690
ClinVar RCV Id:
RCV000444524
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_742054.1:p.Phe277Leu |
CA204228
NM_172057.3:c.829T>C
CA16605169
NM_172057.3:c.831C>A
CA369857954
NM_172057.3:c.831C>G
|