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:
253226
ClinVar RCV Id:
RCV000239708
ClinVar Variation Id:
2673481
ClinVar RCV Id:
RCV003450203
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_653207.1:p.Met1Ile |
CA10586274
NM_144606.7:c.3G>C
CA398535532
NM_144606.7:c.3G>T
CA398535533
NM_144606.7:c.3G>A
|