SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.
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.
This migration is underway but taking longer than originally estimated.
Linked Data
ClinVar Variation Id:
374946
ClinVar RCV Id:
RCV000415722
RCV001324688
RCV001775787
RCV003449041
RCV003449042
RCV002480274
RCV003449040
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001317518.1:p.Met307Ile |
CA859081
NM_001330589.2:c.921G>A
CA340394123
NM_001330589.2:c.921G>C
CA340394124
NM_001330589.2:c.921G>T
|