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: PA915967968

Gene: CCDC88C HGNC NCBI

Linked Data

ClinVar Variation Id: 731764

ClinVar RCV Id: RCV000906770

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073883.2:p.Met716Ile	CA7309735 NM_001080414.4:c.2148G>A CA390631302 NM_001080414.4:c.2148G>T CA390631305 NM_001080414.4:c.2148G>C