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: PA2580133461

Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 1959761

ClinVar RCV Id: RCV002701449

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001025054.1:p.Phe1084Leu	CA346475499 NM_001029883.3:c.3252C>G CA346475500 NM_001029883.3:c.3252C>A CA346475506 NM_001029883.3:c.3250T>C