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: PA2826665626

Gene: PEX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1392915

ClinVar RCV Id: RCV001896455

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269607.1:p.Phe409Leu	CA368184965 NM_001282678.2:c.1227T>G CA368184973 NM_001282678.2:c.1227T>A CA368184986 NM_001282678.2:c.1225T>C