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: PA2580532585

Gene: PIGN HGNC NCBI

Linked Data

ClinVar Variation Id: 2167608

ClinVar RCV Id: RCV003086527

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_789744.1:p.Phe186Leu	CA301686130 NM_176787.5:c.556T>C CA402602319 NM_176787.5:c.558T>G CA402602320 NM_176787.5:c.558T>A