Allele Registry

Canonical Allele Identifier: PA916013743

Gene: PEX1 HGNC NCBI

ClinVar Allele:

311936

ClinVar RCV:

RCV000348562

RCV000598077

RCV001507172

RCV003932488

ClinVar Variation:

360927

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269606.1:p.Val481Ile	CA4341401 NM_001282677.2:c.1441G>A