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:
242262
ClinVar RCV Id:
RCV000228679
ClinVar Variation Id:
642210
ClinVar RCV Id:
RCV000795627
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001316989.1:p.Phe462Leu |
CA10582712
NM_001330060.2:c.1386T>G
CA376071662
NM_001330060.2:c.1384T>C
CA376071670
NM_001330060.2:c.1386T>A
|