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: PA2825139154

Gene: PCCA HGNC NCBI

Linked Data

ClinVar Variation Id: 2069132

ClinVar RCV Id: RCV002958757

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000273.2:p.His384Gln	CA255987364 NM_000282.4:c.1152C>A CA388695278 NM_000282.4:c.1152C>G