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:
242579
ClinVar RCV Id:
RCV001854843
ClinVar Variation Id:
2194147
ClinVar RCV Id:
RCV002624250
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_077282.3:p.Phe39Leu |
CA052525
NM_024306.5:c.117C>A
CA396768381
NM_024306.5:c.117C>G
CA396768386
NM_024306.5:c.115T>C
|