Allele Registry

Canonical Allele Identifier: PA916013694

Gene: PEX1 HGNC NCBI

ClinVar RCV:

RCV000178773

RCV000764731

RCV002516781

ClinVar Variation:

197673

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269606.1:p.Thr222Ile	CA245941 NM_001282677.2:c.665C>T