Allele Registry

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.

Canonical Allele Identifier: PA645392721

Gene: CCDC8 HGNC NCBI

Linked Data

ClinVar Variation Id: 377246

ClinVar RCV Id: RCV000431700

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_114429.2:p.Asn318Lys	CA9528568 NM_032040.5:c.954T>G CA406460557 NM_032040.5:c.954T>A