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:
836551
ClinVar RCV Id:
RCV001037712
ClinVar Variation Id:
853441
ClinVar RCV Id:
RCV001058243
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_066000.2:p.Phe336Leu |
CA2701748
NM_020949.3:c.1008C>G
CA87712620
NM_020949.3:c.1006T>C
CA355492019
NM_020949.3:c.1008C>A
|