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:
694082
ClinVar RCV Id:
RCV001030833
ClinVar Variation Id:
694193
ClinVar RCV Id:
RCV001030945
ClinVar Variation Id:
694196
ClinVar RCV Id:
RCV001030948
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001357659.1:p.Phe158Leu |
CA400156514
NM_001370730.1:c.474C>G
CA400156515
NM_001370730.1:c.474C>A
CA400156521
NM_001370730.1:c.472T>C
|