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: PA915965153

Gene: CHRND HGNC NCBI

Linked Data

ClinVar Variation Id: 662888

ClinVar RCV Id: RCV000820631 RCV003279111

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000742.1:p.Phe444Leu	CA2168323 NM_000751.2:c.1330T>C CA351005738 NM_000751.2:c.1332C>A CA351005743 NM_000751.2:c.1332C>G