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: PA2826664719

Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1017669

ClinVar RCV Id: RCV001316857 RCV003898302

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269606.1:p.Thr268Ser	CA4341536 NM_001282677.2:c.803C>G CA368199755 NM_001282677.2:c.802A>T