Allele Registry

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.

Canonical Allele Identifier: PA167811

Gene: RAD50 HGNC NCBI

Linked Data

ClinVar Variation Id: 142230

ClinVar RCV Id: RCV000131229

ClinVar Variation Id: 2557572

ClinVar RCV Id: RCV004325365

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_005723.2:p.Ile432Leu	CA167810 NM_005732.3:c.1294A>T CA360943699 NM_005732.3:c.1294A>C