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: PA2828620946

Gene: PROC HGNC NCBI

Linked Data

ClinVar Variation Id: 331107

ClinVar RCV Id: RCV000339693

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001362533.1:p.Asp243Glu	CA10612100 NM_001375604.1:c.729C>G CA348401704 NM_001375604.1:c.729C>A