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: PA2499285752

Gene: CNNM4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1047649

ClinVar RCV Id: RCV001352390

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_064569.3:p.Gly177Arg	CA347714220 NM_020184.4:c.529G>A CA347714221 NM_020184.4:c.529G>C