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:
97937
ClinVar RCV Id:
RCV000084196
ClinVar Variation Id:
97938
ClinVar RCV Id:
RCV000084197
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_004886.3:p.Phe525Leu |
CA281229
NM_004895.5:c.1575C>A
CA281233
NM_004895.5:c.1575C>G
CA345557192
NM_004895.5:c.1573T>C
|